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Article

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

Archives of neurology - 1 Oct 2004

Ro Long-Sun, Lee-Chen Guey-Jen, Lin Tzu-Ching, Wu Yih-Ru, Chen Chiung-Mei, Lin Cheng-Yueh, Chen Sien-Tsong

Abstract excerpt

BACKGROUND: Miyoshi distal myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) were found to map to the same mutant gene encoding for dysferlin on chromosome 2p13. Most reported cases were large inbred kindreds whose members demonstrated both MM and LGMD2B phenotypes. OBJECTIVE: To investigate the clinical, neurophysiological, histopathological, and genetic features in 4 patients with MM from 2...

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Identifiers

PMID: 15477515
DOI: 10.1001/archneur.61.10.1594

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

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