muscular dystrophy—congenital merosin-deficient—1A

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muscular dystrophy—congenital merosin-deficient—1A2016-11-27T12:42:34+00:00

muscular dystrophy—congenital merosin-deficient—1A


Definition An autosomal recessive condition (OMIM:607855) characterised by changes of muscular dystrophy of later onset than that of classic muscular dystrophy with a limb-girdle distribution, variably accompanied by mental retardation, seizures, subclinical cardiac involvement, and defects in neuronal migration during the embryonic period.

Molecular pathology Loss-of-function mutations of LAMA2, which encodes laminin alpha 2, a subunit of laminin 2 (merosin) and laminin 4 (s-merosin)—cause severe muscular dystrophy—congenital—merosin-deficient 1A; missense mutations cause milder disease.  

Synonyms Merosin-deficient muscular dystrophy, muscular dystrophy—congenital—due to partial LAMA2 deficiency 


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