Title : Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene.

Pub. Date : 1995 May

PMID : 7741283






3 Functional Relationships(s)
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1 RESULTS: Four individuals with myotonia were shown to carry a guanine-to-cytosine mutation at nucleotide position 3917 of the reported SCN4A sequence. Guanine sodium voltage-gated channel alpha subunit 4 Homo sapiens
2 RESULTS: Four individuals with myotonia were shown to carry a guanine-to-cytosine mutation at nucleotide position 3917 of the reported SCN4A sequence. Cytosine sodium voltage-gated channel alpha subunit 4 Homo sapiens
3 CONCLUSIONS: The current report provides direct evidence that succinylcholine-induced MMR, whole-body rigidity, and an abnormal IVCT result are associated with a mutation in the SCN4A gene. Succinylcholine sodium voltage-gated channel alpha subunit 4 Homo sapiens