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 in 24 cases of CMD in relation to the merosin status. Immunocytochemistry showed that merosin was present in 13 cases...
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