A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

Mutations in guanosine diphosphate mannose pyrophosphorylase B (GMPPB) have been found to cause a wide spectrum of neuromuscular syndromes, including congenital muscular dystrophy, limb girdle muscular dystrophy with or without cognitive impairment, recurrent rhabdomyolysis and congenital myasthenic syndrome (CMS) [1 –3]. Some patients also present with myopathy-CMS overlap phenotypes [2]. Like other CMS caused by defects of glycosylation, GMPPB-CMS typically affects limb girdle muscles, without significant ocular or bulbar weakness [4].

Source: Neuromuscular Disorders - July 4, 2019 Category: Neurology Authors: Stefan Nicolau, Teerin Liewluck, Xin-Ming Shen, Duygu Selcen, Andrew G. Engel, Margherita Milone Tags: Case report Source Type: research