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). Here, LAMA2 is linked to Menkes disease.