Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties

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Recessive mutations in LAMA2 commonly cause a severe early-onset congenital muscular dystrophy (CMD1A) and more rarely, a late-onset limb-girdle muscular dystrophy (LGMD). This mild phenotype is explained by a partial deficiency of the laminin α2 chain. Here, we report a non-consanguineous family with three subjects affected by a LGMD with onset in adulthood. The three patients shared a common slowly progressive limb-girdle muscle weakness with a pelvic-femoral predominance. A severe dilated cardiomyopathy with rhythm and conduction disturbances was found only in one patient.

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