Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
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.
Allamand
Valérie
V
INSERM 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
Guicheney
Pascale
P
D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D007797:Laminin / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D009154:Mutation
D007797:Laminin; C102645:laminin alpha 2