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Article

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Clinical neurology and neurosurgery - 1 Aug 2013

Zhao Zhe, Hu Jing, Sakiyama Yusuke, Okamoto Yuji, Higuchi Itsuro, Li Na, Shen Hongrui, Takashima Hiroshi

Abstract excerpt

OBJECTIVE: Dysferlinopathies belong to heterogeneous group of autosomal recessive muscular disorders caused by mutations in the gene encoding dysferlin. The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (DMAT) with...

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Source

Identifiers

PMID: 23254335
DOI: 10.1016/j.clineuro.2012.11.010

Genes

DYSF

Variants

Provenance

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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