Nihon yakurigaku zasshi. Folia pharmacologica JaponicaHumansChannelopathiesMutationMuscleSkeletal
[Functional analysis of the mutant channels associated with skeletal muscle channelopathies].
Tomoya Kubota, Yuna Sakakibara
Published: 202610.1254/fpj.25041
Abstract
Skeletal muscle channelopathies are rare genetic disorders caused by mutations in voltage-gated ion channel genes that regulate sarcomere excitability, including the CLCN1 gene encoding ClC-1, the KCNJ2 gene encoding Kir2.1, the SCN4A gene encoding N…
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