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

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

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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 indivi...

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Main Authors:	Belaya, K, Finlayson, S, Slater, C, Cossins, J, Liu, W, Maxwell, S, McGowan, S, Maslau, S, Twigg, S, Walls, T, Pascual Pascual, S, Palace, J, Beeson, D
Format:	Journal article
Language:	English
Published:	2012

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