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Article

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.

Orphanet journal of rare diseases - 9 Dec 2020

Yu Meng, Zhu Ying, Lu Yuanyuan, Lv He, Zhang Wei, Yuan Yun, Wang Zhaoxia

Abstract excerpt

BACKGROUND: Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. RESULTS: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle...

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Identifiers

PMID: 33298082
DOI: 10.1186/s13023-020-01626-y
PMCID: PMC7727133

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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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