To date, clinical studies on LAMA2-related disorders have primarily documented neuromuscular manifestations, which are limited to four well-characterized phenotypes (6, 23): (1) congenital muscular dystrophy type 1A (MDC1A) with complete merosin deficiency; (2) congenital muscular dystrophy with partial merosin deficiency; (3) late-onset autosomal recessive limb-girdle muscular dystrophy type 23 (LGMDR23); and (4) peripheral neuropathy. The gene discussed is LAMA2; the disease is congenital muscular dystrophy.