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Article

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Nature genetics - 1 Sept 1998

Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea J A, Hentati F, Hamida M B, Bohlega S, Culper E J, Amato A A, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler B A, Schurr E, Arahata K, de Jong P J, Brown R H

Abstract excerpt

Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome (PAC) contig spanning the MM candidate region. This clarified the order of genetic markers across the MM locus, provided five new polymorphic markers within it and narrowed the locus to approximately 2 Mb. Five skeletal...

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Identifiers

PMID: 9731526
DOI: 10.1038/1682

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.PMID 9731526Read ↗

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.Semantic proximity Read ↗

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.Semantic proximity Read ↗

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.Semantic proximity Read ↗

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.Semantic proximity Read ↗

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.Semantic proximity Read ↗

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.Semantic proximity Read ↗

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.Semantic proximity Read ↗

Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.Semantic proximity Read ↗

Dysferlinopathies.Semantic proximity Read ↗

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.Semantic proximity Read ↗

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].Semantic proximity Read ↗

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