A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

Mutations in GMPPB cause a wide spectrum of neuromuscular syndromes, including muscular dystrophies and congenital myasthenic syndrome. The mechanisms by which GMPPB mutations impair neuromuscular transmission however remain incompletely understood. We expand here upon a previous report of one such...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neuromuscul Disord
Prif Awduron: Nicolau, Stefan, Liewluck, Teerin, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G., Milone, Margherita
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6897485/
https://ncbi.nlm.nih.gov/pubmed/31378432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2019.07.001
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