Congenital muscular dystrophy with partial deficiency of merosin
Section snippets
Discussion
We describe a Japanese patient with CMD and partial merosin deficiency by clinical features and immunohistochemistry of biopsied muscle. Merosin-deficient CMD patients tend to have severe hypotonia after birth; many do not achieve ambulation. High density abnormality in the white matter on MRI is an important feature for differential diagnosis (Sunada et al., 1995a). Our patient is similar to the previously reported patients with merosin-deficient CMD. By immunostaining using anti-merosin
References (14)
- et al.
Congenital progressive muscular dystrophy of the Fukuyama type
Brain, Dev (Tokyo)
(1981) - et al.
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy
Lancet
(1996) - et al.
Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus
J. Biol. Chem.
(1994) - et al.
Laminin animal models for muscular dystrophy: defect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice
Proc. Jpn. Acad.
(1993) - et al.
Mutations in the laminin α 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
Nat, Genet
(1995) - et al.
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
Hum, Mol, Genet.
(1994) - et al.
Dystrophin–glycoprotein complex: Its role in the molecular pathogenesis of muscular dystrophies
Muscle, Nerve.
(1994)
There are more references available in the full text version of this article.
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