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Article

Rapid screening for Japanese dysferlinopathy by fluorescent primer extension.

Internal medicine (Tokyo, Japan) - 1 Jan 2010

Hayashi Saori, Ohsawa Yutaka, Takahashi Toshiaki, Suzuki Naoki, Okada Tadashi, Rikimaru Mitsue, Murakami Tatsufumi, Aoki Masashi, Sunada Yoshihide

Abstract excerpt

OBJECTIVE: Mutations in the dysferlin gene cause limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM), which are collectively named dysferlinopathy. Dysferlinopathy is the most frequent type of LGMD in the Japanese population. Molecular genetic analysis is essential for the diagnosi...

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PMID: 21173544
DOI: 10.2169/internalmedicine.49.3771

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21173544-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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