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

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

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. by Belaya, K, Finlayson, S, Slater, C, Cossins, J, Liu, W, Maxwell, S, McGowan, S, Maslau, S, Twigg, SR, Walls, T, Pascual Pascual, S, Palace, J, Beeson, D

Published 2012

Journal article

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. by Belaya, K, Finlayson, S, Slater, C, Cossins, J, Liu, W, Maxwell, S, McGowan, S, Maslau, S, Twigg, SR, Walls, T, Pascual Pascual, S, Palace, J, Beeson, D

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