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Article

Heterogeneous characteristics of Korean patients with dysferlinopathy.

Journal of Korean medical science - 1 Apr 2012

Park Hyung Jun, Hong Ji-Man, Suh Gyoung Im, Shin Ha Young, Kim Seung Min, Sunwoo Il Nam, Suh Bum Chun, Choi Young-Chul

Abstract excerpt

Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic...

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Share to Muscular Atrophy
Share to Muscular Dystrophies, Limb-Girdle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Distal Myopathies

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Source

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Identifiers

PMID: 22468107
DOI: 10.3346/jkms.2012.27.4.423
PMCID: PMC3314856

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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