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

@article{Philpot1995ClinicalPI,
  title={Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal},
  author={J. Morgan Philpot and Caroline A. Sewry and Jackie Pennock and Victor Dubowitz},
  journal={Neuromuscular Disorders},
  year={1995},
  volume={5},
  pages={301-305}
}
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 and markedly deficient in 11. In the merosin-positive cases, the maximum motor… CONTINUE READING
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