Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

OBJECTIVE: To characterize the molecular and phenotypic basis of a severe slow‐channel congenital myasthenic syndrome (SCCMS). METHODS: Intracellular and single‐channel recordings from patient endplates; alpha‐bungarotoxin binding studies; direct sequencing of AChR genes; microsatellite analysis; ki...

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Pubblicato in:Ann Clin Transl Neurol
Autori principali: Shen, Xin‐Ming, Milone, Margherita, Wang, Hang‐Long, Banwell, Brenda, Selcen, Duygu, Sine, Steven M., Engel, Andrew G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6801167/
https://ncbi.nlm.nih.gov/pubmed/31560172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50902
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