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Article

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.

Neuromuscular disorders : NMD - 1 Jul 2013

Park Jin-Mo, Kim Ye Jin, Yoo Jeong Hyun, Hong Young Bin, Park Ji Hoon, Koo Heasoo, Chung Ki Wha, Choi Byung-Ok

Abstract excerpt

Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. Through whole exome sequencing, we identified a novel p.Ala1439Pro MYH7 mutation in a Korean LDM family. This missense mutation is located in more N-terminal than any reported rod domain LDM mutations. In the early stage of disease, the present patients showed similar clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23707328
DOI: 10.1016/j.nmd.2013.04.003

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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