Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

ABSTRACT: Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed whole-exome sequencing to determine the underlying defect in a group of individuals with an inherited limb-girdle pattern of myasthenic weakness. We identify DPAGT1 as a gene in which mutations cause a congenital myasthenic syndrome. We describe seven different mutations found in five individuals with DPAGT1 mutations. The affected individuals share a number of common clinical features, including involvement of proximal limb muscles, response to treatment with cholinesterase inhibitors and 3,4-diaminopyridine, and the presence of tubular aggregates in muscle biopsies. Ana

SUBMITTER: Belaya K 

PROVIDER: S-EPMC3397259 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature