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Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
Refinement of the Laminin Alpha 2 Chain Locus To Human Chromosome 6Q2 in Severe and Mild Merosin Deficient Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1997)
About half of the children with classical congenital muscular dystrophy (CMD) show an absence in their skeletal muscle of laminin alpha 2 chain, one of the components of the extracellular matrix protein, merosin. Linkage ...