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

Journal article

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 fou...

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Authors: Belaya, K; Finlayson, S; Slater, C; Cossins, J; Liu, W

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 91
• Issue: 1
• Pages: 193-201
• Publication date: 2012-07-01
• DOI: 10.1016/j.ajhg.2012.05.022
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Glycosylation; Neuromuscular Junction; Transferases (Other Substituted Phosphate Groups); Female; Cholinesterase Inhibitors; Receptors, Cholinergic; Lower Extremity; 4-Aminopyridine; Mutation; Middle Aged; Tunicamycin; Motor Endplate; Male; Humans; Adult; Myasthenic Syndromes, Congenital