Congenital myasthenia–related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating
نویسندگان
چکیده
منابع مشابه
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
Congenital myasthenias (CMs) arise from defects in neuromuscular junction-associated proteins. Deciphering the molecular bases of the CMs is required for therapy and illuminates structure-function relationships in these proteins. Here, we analyze the effects of a mutation in 1 of 4 homologous subunits in the AChR from a CM patient, a Leu to Pro mutation at position 42 of the delta subunit. The ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2008
ISSN: 0021-9738
DOI: 10.1172/jci34527