CONGENITAL MUSCULAR DYSTROPHIES: EP.70 Exploring the role of genetic modifiers in a mild LAMA2-RD case associated with a LAMA2 loss-of-function mutation

Abstract

Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is a neuromuscular disorder caused by mutations in the LAMA2 gene, coding for the alpha2 subunit of laminin-211 (merosin). LAMA2-RD patients carrying LAMA2 loss-of-function mutations lack merosin and their invariably severe clinical phenotype is characterised by the inability to acquire ambulation. A wider and often milder spectrum of disease severity results from missense mutations if they allow the production of a partially functional protein.