Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle.

doi:10.1016/0960-8966(94)00069-l

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Article

Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle.

Neuromuscular disorders : NMD - 1 Jul 1995

Philpot J, Sewry C, Pennock J, Dubowitz V

Abstract excerpt

It has recently been shown that merosin, an extracellular matrix protein linked to the dystrophin-associated glycoproteins, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD). We have undertaken a detailed study of the clinical features and brain imaging i...

Topics

Child
Child, Preschool
Creatine Kinase
Humans
Immunohistochemistry
Infant
Infant, Newborn
Laminin
Magnetic Resonance Imaging
Male
Muscle, Skeletal
Muscular Dystrophies
Phenotype
Walking

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