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Article

An algorithm for candidate sequencing in non-dystrophic skeletal muscle channelopathies.

Journal of neurology - 1 Jul 2013

Nam Tai-Seung, Lossin Christoph, Kim Dong-Uk, Kim Myeong-Kyu, Kim Young-Ok, Choi Kang-Ho, Choi Seok-Yong, Park Sang-Cheol, Na In-Seop

Abstract excerpt

Human skeletal muscle channelopathies (HSMCs) are a group of heritable conditions with ion channel-related etiology and similar presentation. To create a comprehensive picture of the phenotypic spectrum for each condition and to devise a strategy that facilitates the differential diagnosis, we collected the genotype and phenotype information from more than 500 previously published HSMC studies. Using these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23456025
DOI: 10.1007/s00415-013-6872-8

Genes

CLCN1
KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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