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Eur J Hum Genet. 2002 Feb;10(2):91-4.

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).

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  • 1INSERM U523, Institut de Myologie-Bâtiment Joseph Babinski, Groupe Hospitalier Pitié-Salpétrière, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France. v.allamand@myologie.chups.jussieu.fr

Abstract

Congenital muscular dystrophies (CMDs) are a highly heterogeneous group of neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the extracellular matrix, the alpha2 chain of laminin-2 (merosin). A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes.

PMID:
11938437
[PubMed - indexed for MEDLINE]
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