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Article

Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea.

Journal of the neurological sciences - 15 Dec 2017

Lee Jong-Mok, Lim Jeong Geun, Shin Jin-Hong, Park Young-Eun, Kim Dae-Seong

Abstract excerpt

Nemaline myopathy (NM), the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to identify the causative mutations of NM and to reveal any specific genotype-phenotype relationship in Korean patients with this disease. We investigated the clinical features and genotypes in 15 pathologically diagnosed NM patients, using whole exome sequencing (WES) combined...

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Source

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PMID: 29246625
DOI: 10.1016/j.jns.2017.10.020

Genes

NEB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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