Two clinical phenotypes of LAMA2-MD have been identified: early-onset LAMA2 related congenital muscular dystrophy (LAMA2-CMD, also known as congenital muscular dystrophy type 1A, MDC1A) and mild, late-onset limb girdle muscular dystrophy (LGMD R23) (7–9). The gene discussed is LAMA2; the disease is Congenital muscular dystrophy type 1A.