Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene

We report on a Turkish patient with congenital myopathy with a fiber type disproportion and central myonuclei comparable to a centronuclear myopathy and skin blistering (epidermolysis bullosa simplex, EBS) due to a novel homozygous mutation in the plectin gene, a cytoskeleton-membrane anchorage protein. So far, EBS has only been described to be associated with congenital or limb girdle muscular dystrophy, myasthenic syndrome, or pyloric atresia. A clubfoot and hypotonia were noted directly at birth, skin blistering was identified shortly after cast treatment of the foot malposition.

Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: M. Walter, P. Reilich, S. Krause, A. Abicht, B. Schoser Source Type: research