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Article

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Chinese medical journal - 5 Oct 2016

Jin Su-Qin, Yu Meng, Zhang Wei, Lyu He, Yuan Yun, Wang Zhao-Xia

Abstract excerpt

BACKGROUND: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. METHODS: Eighty-nine index patients were included in the study. DYSF gene analysis was performed by Sanger sequencing in 41 patients and targeted next generation sequencing (NGS) in 48 patients. Multiplex ligation-dependent probe...

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Identifiers

PMID: 27647186
DOI: 10.4103/0366-6999.190671
PMCID: PMC5040013

Genes

DYSF

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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