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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Auteurs principaux: Belaya, Katsiaryna, Finlayson, Sarah, Slater, Clarke R., Cossins, Judith, Liu, Wei Wei, Maxwell, Susan, McGowan, Simon J., Maslau, Siarhei, Twigg, Stephen R.F., Walls, Timothy J., Pascual Pascual, Samuel I., Palace, Jacqueline, Beeson, David
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397259/
https://ncbi.nlm.nih.gov/pubmed/22742743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.022
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