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].

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