Full text of DOI:10.1016/S0387-7604(02)00009-8

Brain & Development 24 (2002) 118–128
www.elsevier.com/locate/braindev
Bibliography
Bibliography of congenital muscular dystrophies:
Series IV (2000) with Appendix II
a,
b
*
Yukio Fukuyama , Kayoko Saito
aChild Neurology Institute, 6-12-17-201 Minami-Shinagawa, Shinagawa-ku, Tokyo 140-0004, Japan
bDepartment of Pediatrics, Tokyo Women’s Medical University, Tokyo 162-8666, Japan
Received 16 December 2001; accepted 17 December 2001
1. Contents
which appeared in world literature in 2000, and is the 4th
series of supplementary bibliography on the subjects.
In 1997, a comprehensive bibliography, comprising 423
original articles, 60 book chapters, 207 proceedings reports
and 157 abstracts, was issued as a chapter of the book
‘Congenital muscular dystrophies’ (CMD) [1]. Keeping
this as a basis, newly appearing articles on CMD in litera-
ture have been collected, compiled and published as a
supplementary bibliography on CMD once every year for
the last 3 years: Series I (1997) [2], Series II (1998) [3] and
Series III (1999) [4].
Introduction
Part A: Series IV – literature in 2000
I. Congenital muscular dystrophies in general
II. CMD–cobblestone lissencephaly complex
II-1. Fukuyama CMD
II-2. Walker–Warburg syndrome
II-3. Muscle–eye–brain disease
III. CMD not associated with cobblestone lissencephaly
III-1. Merosin deficiency
III-2. Merosin-positive ‘occidental’ CMD
III-3. General or unspecified or dealing with both types
IV. Miscellaneous – unusual, new, or related conditions
V. Basic/experimental
Furthermore, those articles on CMD which were omitted
from the previous list were gathered and published as an
appendix to Series III (1999) [4]. We present here Series IV
(2000) with Appendix II as the supplementary bibliography
on CMD.
Please note the compiling policy which restricted the
subject matter to only CMD; apparently related conditions
such as congenital myotonic dystrophy, congenital non-
dystrophic (non-progressive) myopathies, and type 1 lissen-
cephaly/cortical dysplasias are excluded.
Part B: Appendix II – articles that appeared in 1999 or
before but were omitted from previous bibliography series
I. Congenital muscular dystrophies in general
II. CMD–cobblestone lissencephaly complex
II-1. Fukuyama CMD
II-2. Walker–Warburg syndrome
II-3. Muscle–eye–brain disease
III. CMD not associated with cobblestone lissencephaly
III-1. Merosin deficiency
A copy of any article quoted in the Bibliography Series I–
IV is available from the compiler (Y. Fukuyama) on request.
References
III-2. Merosin-positive ‘occidental’ CMD
III-3. General or unspecified or dealing with both types
IV. Miscellaneous – unusual, new, or related conditions
V. Basic/experimental
[1] Fukuyuama Y. Bibliography of congenital muscular
dystrophies: the up-dated, second edition (February, 1977).
In: Fukuyama Y, Osawa M, Saito K, editors. Congenital
muscular dystrophies. Amsterdam: Elsevier, 1997: pp.
355–436.
[2] Fukuyama Y. Annual bibliography series of congeni-
tal muscular dystrophies – cobblestone lissencephalies:
Series I (1997). Brain Dev 1999;21:350–356.
2. Introduction
[3] Fukuyama Y. Bibliography of congenital muscular
This is a collection of articles that deal with congenital
muscular dystrophies and/or cobblestone lissencephaly
dystrophies – cobblestone lissencephalies: Series II
(1998). Brain Dev 1999;21:491–498.
[4] Fukuyama Y. Bibliography of congenital muscular
* Corresponding author. Tel.: 181-3-3353-8111; fax: 181-3-3474-8628.
E-mail address: yfukuyam@sc4.so-net.ne.jp (Y. Fukuyama).
0387-7604/02/$ - see front matter q 2002 Elsevier Science B.V. All rights reserved.
PII: S0387-7604(02)00009-8

Y. Fukuyama, K. Saito / Brain & Development 24 (2002) 118–128
119
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Ikenaka H, Kawahara M, Yanagaki S, Sumida S, Hira-
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3.1. I. Congenital muscular dystrophies in general
Cohn RD, Campbell KP. Molecular basis of muscular
dystrophies. Muscle Nerve 2000;23:1456–1471.
Darin N, Tulinius M. Neuromuscular disorders in child-
hood: a descriptive epidemiological study from western
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Ferreira LG, Reed UC, Resende MBD, Carvalho MS,
Diament A, Scaff M, Marie SKN. Congenital muscular
dystrophy (CMD): histopathological aspects in a Brazilian
casuistic of 55 cases (abstract). Neuromusc Disord
2000;10(4–5):380.
Voit T, Straub V, Herrmann R. Congenital muscular
dystrophies – disorders of the basement membrane and extra-
cellular matrix? (abstract). Brain Pathol 2000;10(4):498.
3.2. II. CMD–cobblestone lissencephaly complex
Ishitobi M, Haginoya K, Zhao Y, Ohnuma A, Minato J,
Yanagisawa T, Tanabu M, Kikuchi M, Iinuma K. Elevated
plasma levels of transforming growth factor b1 in patients
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Iwatani M. [Orthopedic management for spinal defor-
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report of the Research Committee on Genetic Counselling
and Pathogenesis-Based Therapies of Muscular Dystro-
phies, sponsored by the Ministry of Health and Welfare.
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Jong Y-J, Kobayashi K, Toda T, Kondo-Iida E, Huang S-
C, Shen Y-Z, Nonaka I, Fukuyama Y. Genetic heterogeneity
in three Chinese children with Fukuyama congenital muscu-
lar dystrophy. Neuromusc Disord 2000;10:108–112.
Kaneda Y, Yamamoto T, Kobayashi M. [Clinicopatho-
logical examination of cardiac muscle lesion in Fukuyama
congenital muscular dystrophy] (abstract in Japanese).
Nihon Byori Gakkai Zasshi (J Jpn Soc Pathol) (Tokyo)
2000;89(1):337.
Kato T, Funahashi M, Matsui A, Takashima S, Suzuki Y.
MRI of disseminated developmental dysmyelination in
Fukuyama type of CMD. Pediatr Neurol 2000;23(5):385–
388.
3.2.1. II-1 Fukuyama CMD
Arahata K, Hayashi Y, Ogawa M, Nonaka I, Ishihara T.
[New findings on injury processes of muscle cell in FCMD]
(abstract in Japanese). In: Arahata K, chairperson. Abstracts
of the 2000 annual meeting of the Research Council on
Clinical Pathology and Therapy Development for Muscular
Dystrophies, sponsored by the Ministry of Health and
Welfare, Tokyo, December 1–2, 2000. Tokyo; 2000. p. 10.
Beghetti M, Gervaix A, Haenggeli CA, Berner M,
Rimensberger PC. Myocarditis associated with parvovirus
B19 infection in two siblings with merosin-deficient conge-
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136.
Colombo R, Bignamini AA, Carobene A, Sasaki J,
Tachikawa M, Kobayashi K, Toda T. Age and origin of
the FCMD 30-untranslated-region retrotransposal insertion
mutation causing Fukuyama-type congenital muscular
dystrophy in the Japanese population. Hum Genet
2000;107(6):559–567.
Fukuyama Y. [Fukuyama congenital muscular dystro-
phy – from the establishment of a clinical entity to the
cloning of a responsible gene. The award lecture of the
1999 Grand Award of Japan Medical Association] (in Japa-
nese). Nihon Ishikai Zasshi (J Jpn Med Assoc) (Tokyo)
2000;123(1):47–51.
Garcia-Cruz A, Pavon-Heredia A, Ortega-Perez M,
Estopinan B, Hernandez-Lara J, Infante E. [Fukuyama
type congenital muscular dystrophy (cerebro-muscular
disease) – a case report] (in Spanish). Rev Neurol
2000;31(4):398–400.
Kobayashi M, Shibata T, Yamamoto T, Kanazawa M,
Sawada T, Osawa M, Saito K. [Neuropathological consid-
eration on the cerebral cortical and retinal lesions in
Fukuyama congenital muscular dystrophy] (abstract in
Japanese). Tokyo Joshi Ikadaigaku Zasshi (J Tokyo Wom
Med Univ) (Tokyo) 2000;70(10/11):669.
Kondo E, Toda T, Saito K, Osawa M. [Molecular genetic
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daigaku Zasshi (J Tokyo Wom Med Univ) (Tokyo)
2000;70(Suppl):E16–E22.
Konishi M, Kumagai H, Yonezawa S, Takasago Y. [A
case of Fukuyama congenital muscular dystrophy. Effects of
respiration management at home] (abstract in Japanese).
Nihon Shonika Gakkai Zasshi (J Jpn Pediatr Soc) (Tokyo)
2000;104(11):1129.
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nese). In: Arahata K, chairperson. Abstracts of the 2000
annual meeting of the Research Council on Clinical Pathol-
ogy and Therapy Development for Muscular Dystrophies,
sponsored by the Ministry of Health and Welfare, Tokyo,
December 1–2, 2000. Tokyo; 2000. p. 8.
Saito Y, Mizuguchi M, Oka A, Takashima S. Fukutin
expression in developing human brain (abstract). Brain
Pathol 2000;10(4):762.
Kumada S, Tsuchiya K, Takahashi M, Takesue M,
Shiotsu H, Nomura Y, Segawa M, Ikeda K, Hayashi M.
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type congenital muscular dystrophy. Acta Neuropathol
2000;99:209–213.
Nakano I, Saito Y, Murayama S, Kawai M, Kashima K,
Ishida T, Machinami R, Toda T. Cerebral cortical pathology
of Fukuyama-type congenital muscular dystrophy (FCMD)
(abstract). Brain Pathol 2000;10(4):767.
Okinaga T, Matsuoka T, Toribe Y, Imai K, Suzuki Y,
Ono J, Okada S, Kondo E, Toda T. [Clinical reassessment of
genetic test-proven patients with FCMD] (abstract in Japa-
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Osawa M, Kobayashi M. [Fukuyama type congenital
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Osawa M, Hino N, Kobayashi M, Shibata R, Yamamoto
T, Kato Y, Sumida S, Shishikura K, Suzuki H, Hirayama Y,
Saito K. [A pathological study on retinal lesion in patients
with FCMD] (abstract in Japanese). In: Ishihara T, chairper-
son. Abstracts of the 2000 annual meeting of the Research
Council on Genetic Counselling and Pathogenesis-Based
Therapy Development for Muscular Dystrophies, sponsored
by the Ministry of Health and Welfare, Tokyo, December 6–
7, 2000. Saitama; 2000. p. 29.
Osawa M, Sakauchi M, Nakanishi T, Takamatsu H,
Sumida S, Saito K, Monma K. [A study on a cardiac func-
tion in patients with FCMD] (abstract in Japanese). In: Ishi-
hara T, chairperson. Abstracts of the 2000 annual meeting of
the Research Council on Genetic Counselling and Patho-
genesis-Based Therapy Development for Muscular Dystro-
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Tokyo, December 6–7, 2000. Saitama; 2000. p. 30.
Osawa M. [Congneital muscular dystrophy (Fukuyama
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Sakauchi M, Nakanishi T, Tomimatsu H, Saito K,
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(abstract). Neuromusc Disord 2000;10(4–5):382.
Sakauchi M, Nakanishi T, Tomimatsu H, Saito K,
Monma K, Osawa M. [Cardiac function in patients with
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Japanese). Nihon Shonika Gakkai Zasshi (J Jpn Pediatr
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Sasaki J, Ishikawa K, Kobayashi C, Kondo E, Takashima
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Sasaki J, Kondo-Iida E, Kobayashi K, Ishikawa K,
Tachikawa M, Saito K, Osawa M, Takashima S, Nakamura
Y, Toda T. Neuronal expression and mutational analysis of
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5):350–351.
Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E,
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Nakamura Y, Toda T. Neuronal expression of the fukutin
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Sasaki J, Ishikawa K, Kobayashi C, Kondo E, Takashima
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Sasaki M, Kokonoe K, Hayashi Y, Yamada M, Ihara M.
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patients with Fukuyama congenital muscular dystrophy.
Towards its application] (abstract in Japanese). Iryo (Jpn J
Natl Med) (Aichi) 2000;54(Suppl):368.
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2000;18(10):1222–1223.
Saito K, Osawa M, Wang Z-P, Ikeya K, Fukuyama Y,
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Saito K, Shirakawa S, Noda N, Ito M, Sakauchi M,
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Toda T. [Recent advances in the research of Fukuyama
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Toda T, Tachikawa M, Kobayashi C, Shikano H, Sasaki J,
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Ushiyama N, Kikuchi T, Fujimori M, Ogihara S,
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Chadani Y, Kondoh T, Kamimura N, Matsumoto T,
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Hayashi T, Ichikawa T, Furukawa S. [Walker–Warburg
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Kuo Y-T, Nonaka I. The histomorphologic findings in
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Rohrbach JM, Schlote T, Strik H, Bornemann A.
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Wang Z, Saito K, Osawa M. [Analysis of genotype and
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Yamada K, Ito Y. [How to interact with a mother of a
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Yamagami T, Mori K, Miyazaki M, Saijo T, Hashimoto
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Yamamoto T, Kato Y, Shibata R, Kanazawa M, Sawada
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Zenker M, Dorr HG. A case associated with Walker–
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Yamamoto T, Shibata T, Kanazawa M, Sawada T,
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Yoshioka M, Kuroki S, Kondo E, Toda T. [Clinical
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Yoshioka M, Sasaki H, Toda T. [Clinical studies of
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3.3. III. CMD not associated with cobblestone lissencephaly
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Matsumura K. [Congenital laminin a2 deficient muscu-
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in three Italian families: evidence for a novel CMD
syndrome. Neuromusc Disord 2000;10:541–547.
Talim B, Ferreiro A, Cormand B, Vignier N, Oto A,
ˇ
¨ ¨
Gogus S, Cila A, Lehesjaki A-E, Pihko H, Guicheney P,
˘
Topaloglu H. Merosin-deficient congenital muscular dystro-
phy with mental retardation and cerebellar cysts unlinked to
the LAM2, FCMD and MEB loci. Neuromusc Disord
2000;10:548–552.
Taratuto A, Lubieniecki F, Pirra L, Dubrovsky A.
Congenital muscular dystrophy with merosin deficiency,
white matter abnormalities, and late onset epilepsy
(abstract). Brain Pathol 2000;10(4):534.
3.4. IV. Miscellaneous – unusual, new, or related conditions
¨
Bonnemann CG, Hausser I, Christen HJ, Lumprecht IA,
Yamamura Y, Matsuoka M, Masuyama T, Ohta M,
Ohtani Y. [A probable case of congenital muscular dystro-
phy with partial merosin deficiency] (abstract in Japanese).
No To Hattatsu (Brain Dev) (Tokyo) 2000;32(1):83.
Hanefeld F. Congenital myopathies/muscular dystrophies
with joint hypermobility and alterations of the skin collagen
complement (abstract). Neuromusc Disord 2000;10(4–
5):351.
Brockington M, Sewry CA, Herrmann R, Naom I, Dear-
˘
love A, Rhodes M, Topaloglu H, Dubowitz V, Voit T,
3.3.2. III-2 Merosin-positive ‘occidental’ CMD
Muntoni F. Assignment of a form of congenital muscular
dystrophy with secondary merosin deficiency to chromo-
some 1q42. Am J Hum Genet 2000;66:428–435.
Fischer P, Paschrou I, Haslinger A, Pongratz DE, Muel-
ler-Felber WI. Heparan-sulfate-proteoglycan upregulation
in merosin-positive congenital muscular dystrophy
(abstract). Brain Pathol 2000;10(4):534.
Huang F-L, Mak S-C, Chi C-S. Congenital muscular
dystrophy. Chung Hua I Hsueh Tsa Chih (Chin Med J)
(Taipei) 2000;63(2):165–169.
Kobarai M, Hanai T, Narasaki O, Otani Y. [A boy of
suspicious congenital muscular dystrophy manifesting
remarkable weakness and respiratory distress since the
Brockington M, Bushby K, Sewry C, Brown SC,
Muntoni F. A subset of late onset muscular dystrophy
patients with deficiency of merosin are allelic with CMD
1b (abstract). Neuromusc Disord 2000;10(4–5):381.
Brown SC, Ugo I, Brockington M, Feng L, Voit T, Bushby
K, Sewry C, Muntoni F. Abnormal a-dystroglycan expres-
sion in muscular dystrophies with secondary deficiency of
laminin a2 (abstract). Neuromusc Disord 2000;10(4–5):381.

Y. Fukuyama, K. Saito / Brain & Development 24 (2002) 118–128
123
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsur-
uda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP,
Leppert M. Congenital muscular dystrophy with rigid spine
syndrome: a clinical, pathological, radiological and genetic
study. Ann Neurol 2000;47(2):152–161.
(abstract in Japanese). No To Hattatsu (Brain Dev)
(Tokyo) 2000;32(Suppl):S274.
3.5. V. Basic/experimental
Kurihara M, Kumagai K, Nakae Y, Nishino I, Nonaka I.
[Two sibling cases with non-Fukuyama type congenital
muscular dystrophy with low serum selenium levels – ther-
apeutic effects of oral selenium administration] (in Japa-
nese). No To Hattasu (Brain Dev) (Tokyo) 2000;32(4):
346–351.
Lattanzi G, Muntoni F, Sabatelli P, Squarzoni S, Maraldi
NM, Cenni V, Villanova M, Columbaro M, Merlini L,
Marmiroli S. Unusual laminin alpha2 processing in
myoblasts from a patient with a novel variant of congenital
muscular dystrophy. Biochem Biophys Res Commun
2000;277(3):639–642.
Mercuri E, Sewry CA, Brown SC, Brockington M, Jung-
bluth H, DeVile C, Counsell S, Manzur A, Muntoni F.
Congenital muscular dystrophy with secondary merosin
deficiency and normal brain MRI: a novel entity? Neurope-
diatrics 2000;31:186–189.
Minatogawa K, Suehara M, Higuchi I, Kamisato N,
Hirata K, Mayumi H, Osawa M. [Clinical and myopatholo-
gical study of congenital atonic-sclerotic muscular dystro-
phy (Ullrich)] (in Japanese). In: Ishihara T, compiled. The
1999 annual report of the Research Committee on Genetic
Counselling and Pathogenesis-Based Therapies of Muscular
Dystrophies, sponsored by the Ministry of Health and
Welfare. Saitama; 2000. p. 220.
Minatogawa K, Higuchi I, Suehara M. [Complete defi-
ciency of collagen VI in Ullrich’s disease] (abstract in Japa-
nese). In: Ishihara T, chairperson. Abstracts of the 2000
annual meeting of the Research Council on Genetic Coun-
selling and Pathogenesis-Based Therapy Development for
Muscular Dystrophies, sponsored by the Ministry of Health
and Welfare, Tokyo, December 6–7, 2000. Saitama; 2000.
p. 32.
Miura K, Kumagai T, Matsumoto A, Miyazaki S, Kondo
E, Toda T. [A case of congenital muscular dystrophy closely
resembling FCMD] (abstract in Japanese). No To Hattatsu
(Brain Dev) (Tokyo) 2000;32(Suppl):S269.
Belkin AM, Stepp MA. Integrins as receptors for lami-
nins. Microscopy Res Tech 2000;51:280–301.
Dubowitz DJ, Tyszka JM, Sewry CA, Moats RA,
Scadeng M, Dubowitz V. High resolution magnetic reso-
nance imaging of the brain in the dy/dy mouse with mero-
sin-deficient congenital muscular dystrophy. Neuromusc
Disord 2000;10(4–5):292–298.
Iwao M, Fukada S, Harada T, Tsujikawa K, Yagita H,
Hiramine C, Miyagoe Y, Takeda S, Yamamoto H. Interac-
tion of merosin (laminin 2) with very late activation antigen-
6 is necessary for the survival of CD4 1 CD8 1 immature
thymocytes. Immunology 2000;99(4):481–488.
Kakita A, Wakabayashi K, Su B, Boku G, Takahashi H.
[Leptomeningeal glioneuronal heterotopia: cortical dyspla-
sia of cerebral temporal region induced by transplacental
methylmercury administration] (abstract in Japanese).
Neuropathology (Tokyo) 2000;20(Suppl):163.
Kreutzberg GW, Kuecherer-Ehret A, Graeber MB, Edgar
D, Thornen H. Immunoelectron microscopic localization of
laminin in the normal and regenerating sciatic nerve
(abstract). Abstracts of the Second Italo-German Meeting
for Neuropathology. Clin Neuropathol 2000;19(2):102.
Masaki T, Matsumura K, Saito F, Sunada Y, Shimizu T,
Yorifuji H, Motoyoshi K, Kamakura K. Expression of
dystroglycan and laminin-2 in peripheral nerve under
axonal degeneration and regeneration. Acta Neuropathol
2000;99:289–295.
McGowan KA, Marinkovich MP. Laminins and human
disease. Microscopy Res Tech 2000;51:262–279.
Patton BL. Laminins of the neuromuscular system.
Microscopy Res Tech 2000;5:247–261.
Phul RK, Smith ME. Expression of nitric oxide synthase
in the spinal cord in C57BL/6J mice with congenital muscu-
lar dystrophy. Muscle Nerve 2000;23(1):63–72.
Tardif-de Gery S, Vilquin J, Carlier P, Raynaud J, Wary
C, Schwartz K, Leroy-Willig A. Muscular traverse relaxa-
tion time measurement by magnetic resonance imaging at 4
tesla in normal and dystrophic dy/dy and dy(2j)/dy(2j) mice.
Neuromusc Disord 2000;10(7):507–513.
Moghadaszadek B, Ferreiro A, Desguerre I, Topaloglu
H, Muntoni F, Merlini L, Romero N, Barois A, Chaigne D,
´
Fardeau M, Tome FMS, Guicheney P. Description of 14
cases of congenital muscular dystrophy with rigid spine
syndrome linked to RSMD1 locus (abstract). Neuromusc
Disord 2000;10(4–5):351.
Reed UC, Nagahashi Marie SK, Vainzhof M, Gobbo LF,
Gurgel JEP, Carvalho MS, Resende MBD, Espindola AA,
Zatz M, Diament A. Heterogeneity of classic congenital
muscular dystrophy with involvement of the central nervous
system: report of five atypical cases. J Child Neurol
2000;15(3):172–178.
Tisi D, Talts JF, Timpl R, Hohenester E. Structure of the
C-terminal laminin G-like domain pair of the laminin a2
chain harbouring binding sites for a-dystroglycan and
heparin. EMBO J. 2000;19(7):1432–1440.
Tunggal P, Smyth N, Paulsson M, Ott M-C. Laminins:
structure and genetic regulation. Microscopy Res Tech
2000;51:214–227.
Vilquin JT, Vignier N, Tremblay JP, Engvall E,
Schwartz K, Fiszman M. Identification of homozygous
and heterozygous dy2J mice by PCR. Neuromusc Disord
2000;10(1):59–62.
Yano T, Sawaishi Y, Takada G. [A case of congenital
muscular dystrophy with complete dystrophin deficiency]

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Y. Fukuyama, K. Saito / Brain & Development 24 (2002) 118–128
4. Part B: Appendix II – articles that appeared in 1999 or
before but were omitted from previous bibliography
series
Arikawa E, Ishihara T, Nonaka I, Sugita H, Arahata K.
Immunocytochemical analysis of dystrophin in congenital
muscular dystrophy. J Neurol Sci 1991;105(1):79–87.
Castellacci AM, Gualtierotti R, Santillo G, Simoni F,
Pieroni O, Pazzaglia R. [Fukuyama-type congenital muscu-
lar dystrophy with the presence of ocular anomalies] (in
Italian). Pediatr Med Chir 1992;14(2):223–226.
Funazaki Y, Hirai S. [Language development in
Fukuyama congenital muscular dystrophy. A report on 3
cases] (in Japanese). In: Takagi A, compiled. The 1997–
1999 report of the Research Committee on Clinical Patho-
genesis and Therapeutics of Muscular Dystrophies and
Related Disorders, sponsored by the Ministry of Health
and Welfare. Tokyo; 1999. pp. 104–106.
4.1. I. Congenital muscular dystrophies in general
Barth PG, Fleury P, Oorthuys JW. [Congenital muscular
dystrophy – its spectrum] (in Dutch). Tijdschr Kindergen-
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Beckmann R. Klinisch bedeutsame kongenitale
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Bradley WG, Jenkison M. Congenital muscular dystro-
phy. Lancet 1972;2(7773):384.
´
Fardeau M, Tome FM, Vilquin JT, Guicheney P. Conge-
nital muscular dystrophies. A short review of the recent
progresses. Electroencephalogr Clin Neurophysiol 1999;50
(Suppl):335–340.
Fenichel GM. The newborn with poor muscle tone.
Semin Perinatol 1982;6(1):68–88.
Furukawa T, Peter JB. The muscular dystrophies and
related disorders. 1. The muscular dystrophies. J Am Med
Assoc 1978;239(15):1537–1542.
Gordon N. Muscle and brain disease. Dev Med Child
Neurol 1988;30(4):546–549.
Herrmann V. Einige Gesichtspunkte zur Diagnostik,
Hayashi Y, Arahata K, Nonaka I. [Changes of integrin, a
cell adhesion factor, in muscular dystrophies] (abstract in
Japanese). Rinsho Shinkeigaku (Clin Neurol) (Tokyo)
1997;37(12):1280.
Indo K. [Autopsy case of congenital muscular dystrophy]
(in Japanese). Nippon Rinsho (Jpn J Clin Med) (Osaka)
1970;28(9):2357–2359.
Ishikawa Y. [QOL of Fukuyama congenital muscular
dystrophy patients] (in Japanese). The 1999 annual report
of the Research Committee on Up-Grading the QOL of
Muscular Dystrophy Patients, sponsored by the Ministry
of Health and Welfare. Kagoshima. 1999. p. 416.
Kobayashi Y, Suzuki H, Iinuma K, Tada K, Yamamoto
TY. Endothelial alterations of skeletal muscle capillaries in
childhood myopathies. Tohoku J Exp Med (Sendai)
1983;140(4):381–389.
Kokonoe K, Mukai Y, Hayashi Y, Matsunaga K, Fukuda
K, Nishiyama H. [Eating function and its assistance in
Fukuyama congenital muscular dystrophy patients] (in
Japanese). The 1999 annual report of the Research Commit-
tee on Up-Grading the QOL of Muscular Dystrophy
Patients, sponsored by the Ministry of Health and Welfare.
Kagoshima. 1999. pp. 128–130.
Levy JA, Alegro MS, Salum PN, Brotto MW, Levy A.
[Congenital progressive muscular dystrophy of Fukuyama
type: report of a case] (in Portuguese). Arq Neuropsiquiatr
1987;45(2):188–192.
Matsubara S, Kitaguchi T, Isozaki E, Miyamoto K, Hirai
S, Mizuno Y. [Morphologic changes of muscle cell surface
in FCMD] (abstract in Japanese). Rinsho Shinkeigaku (Clin
Neurol) (Tokyo) 1999;39(1):237.
Nakazato A, Shime H, Morooka K, Nonaka I, Takagi A.
[Anesthesia-induced rhabdomyolysis in a patient with
Fukuyama-type congenital muscular dystrophy] (in Japa-
nese). No To Hattatsu (Brain Dev) (Tokyo) 1984;16(5):386–
392.
¨
Aetiologie und Genetik der haufigsten nichtmetabolischen
kongenitalen Myopathien. Paediatr Grenzgeb 1983;22(1):
27–45.
Hoffman EP, Clemens PR. HyperCKemic, proximal
muscular dystrophies and the dystrophin membrane cytos-
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and merosinopathies. Curr Opin Rheumatol 1996;8(6):528–
538.
Joseph BS, Netsky MG. Congenital muscular dystrophy.
Lancet 1978;1(7764):1347.
Jozwiak S, Orzeszko E, Michalowicz R, Wozniewicz B.
[Diagnostic problems of congenital muscular dystrophies in
children] (in Polish). Pediatr Pol (Poland) 1995;70(1):71–74.
Korinthenberg R, Palm D. Congenital muscular dystro-
phy. Brain Dev 1983;5(4):429.
Saper JR. Benign congenital myopathy. A cause for
mild, nonprogressive or slowly progressive muscle weak-
ness. Am J Med 1974;57(2):157–160.
Sarnat HB. Diagnostic value of the muscle biopsy in the
neonatal period. Am J Dis Child 1978;132(8):782–785.
Sewry CA, Muntoni F. Inherited disorders of the extra-
cellular matrix. Curr Opin Neurol 1999;12:519–526.
4.2. II. CMD–cobblestone lissencephaly complex
Odata T. [A thought on meals; memory of a daughter who
suffered from congenital muscular dystrophy and deglutition
disorder] (in Japanese). Kangogaku Zasshi (Jpn J Nurs)
(Tokyo) 1986;50(6):657–661.
Osawa M. [Recent research in muscular dystrophy.
Congenital muscular dystrophy. ZSZ – an extra issue] (in
4.2.1. II-1 Fukuyama CMD
Arahata K, Ishii H, Hayashi Y, Goto Y, Nonaka I.
[Changes of muscle cell basal membrane in Fukuyama
congenital muscular dystrophy – an electron microscopic
observation] (abstract in Japanese). Rinsho Shinkeigaku
(Clin Neurol) (Tokyo) 1997;37(12):1279.

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125
Japanese). Tokyo: Japan Muscular Dystrophy Association;
1996. pp. 1–23.
Tsukamoto T, Ohtake S. [Physical therapy of congenital
muscular dystrophy] (in Japanese). Rigaku Ryoho Journal (J
Phys Ther) (Tokyo) 1998;32(4):290–303.
Yokochi K, Sunahara N, Nonaka I. [Two cases of benign
myopathy; so-called congenital muscular dystrophy, in two
female patients] (in Japanese). Rinsho Shinkeigaku (Clin
Neurol) (Tokyo) 1984;24(9):884–890.
Osawa M, Kato I, Murasugi H, Sumida S, Saito K,
Maruyama H. [Radiomorphological assessment of brain-
stem and cerebellum in Fukuyama congenital muscular
dystrophy] (abstract in Japanese). In: Shimada M, compiled.
The 1998 annual report of the Research Committee on
Pathogenesis of Brain Dysplasia, sponsored by the Ministry
of Health and Welfare. Ohtsu; 1999. pp. 35–42.
4.2.2. II-2 Walker–Warburg syndrome
Saito K, Ikeya K, Komine S, Miyagawa M, Kawakita Y,
Takahashi R, Shishikura K, Suzuki H, Hirayama Y, Osawa
M. [Laminin a2 chain immunostaining in FCMD muscles]
(abstract in Japanese). In: Takagi A, compiled. The 1997–
1999 report of the Research Committee on Clinical Patho-
genesis and Therapeutics of Muscular Dystrophies and
Related Disorders, sponsored by the Ministry of Health
and Welfare. Tokyo; 1999. pp. 112–114.
Saito Y, Murayama S, Kawai M, Nakano I. Breached
cerebral glia limitans-basal lamina complex in Fukuyama-
type congenital muscular dystrophy. Acta Neuropathol
(Berl) 1999;98(4):330–336.
Saito Y, Murayama S, Kanazawa I, Motoyoshi K,
Nakano I. [Abnormal tau phosphorylation in FCMD brain]
(abstract in Japanese). Rinsho Shinkeigaku (Clin Neurol)
(Tokyo) 1999;39(12):1360.
Segawa M. [Congenital muscular dystrophy (Fukuya-
ma’s type)] (in Japanese). Nippon Rinsho (Jpn J Clin
Med) (Osaka) 1978;Suppl:1758–1759.
Shinoda M. [Clinical study of muscular atrophy] (in
Japanese). Hokkaido Igaku Zasshi (Hokkaido J Med)
(Sapporo) 1974;49(1):23–31.
Sunada Y, Saito F, Matsumura K, Shimizu T. [Biochem-
ical analysis of a protein which is involved in causation of
congenital muscular dystrophy with CNS involvement]
(abstract in Japanese). Rinsho Shinkeigaku (Clin Neurol)
(Tokyo) 1997;37(12):1279.
Alifieri G, Campana G, Valentini G. The anterior
segment anomalies in the Warburg syndrome. Ophthalmol
Pediatr Genet 1985;6:141–148.
Beinder EI, Pfeiffer RA, Bornemann A, Wenkel H.
Second-trimester diagnosis of fetal cataract in a fetus with
Walker–Warburg syndrome. Fetal Diagn Ther 1997;12(4):
197–199.
De Wilde G, Hansens M, Govaert P. The Walker–
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129–138.
¨
Ozaltin F, Balci S, Tekinalp G, Akc¸oren Z, Eryilmaz M,
¨
¨
¨ ¨
¨
Gogus S, Ozturk C. A severe case with Walker–Warburg
syndrome with hydrocephalus, cataract, glaucoma, micro-
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annual meeting of the European Society of Human Genet-
ics. Med Med 1997;9:29.
Palomero-Dominguez MA, Ramos-Fernandez JM,
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Neurol 1998;27(158):594–596.
Sanders DG, Mooy CM. Ocular findings in cerebro-
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RN, Sotero M, Vieira MM. [Walker–Warburg syndrome.
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Takahashi K, Takao A, Takai T. Adenylate cyclase in
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Toda T. [Discovery of FCMD-causing gene – originated
from a single ancestor in Jomon-Yayoi era] (in Japanese).
No No Kagaku (Brain Sci) (Tokyo) 1998;21(4):428–430.
Toda T, Nakano I. [Polymicrogyria in Fukuyama conge-
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4.2.3. II-3 Muscle–eye–brain disease
Pihko H, Corman B, Valanne PL, Santavuori P, Lehes-
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clinical picture based on molecular genetic studies
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Shuper A, Nissenkorn I, Mimouni M, Shapira I, Weitz R.
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Toda T. [Molecular genetics and clinical pathology of
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Mol Med (Tokyo) 1999;37(Suppl):64–70.
4.3. III. CMD not associated with cobblestone lissencephaly
4.3.1. III-1 Merosin deficiency
Topaloglu H, Renda Y, Gogus S, Benli S, Nurlu G,
Yildirim M. Fukuyama type congenital muscular dystrophy
in a Turkish child. Can J Neurol Sci 1990;17(2):149–150.
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Mercuri E, Straub V, Hermann R, Sewry C, Naom I,
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kainduzierter Herzstillstand. Kazuistik zweier Sauglinge
mit zuvor nicht bekannter Muskeldystrophie. Anaesthesist
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¨
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Heyck H, Lu¨ders CJ, Wolter M. Uber eine kongenitale
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