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Article

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Yonsei medical journal - 1 Jan 2016

Park Hyung Jun, Jang Hoon, Lee Jung Hwan, Shin Ha Young, Cho Sung Rae, Park Kee Duk, Bang Duhee, Lee Min Goo, Kim Seung Min, Lee Ji Hyun, Choi Young Chul

Abstract excerpt

PURPOSE: This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND METHODS: Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed. RESULTS: Nine different mutations, including four novel mutations (NM_000070:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26632398
DOI: 10.3349/ymj.2016.57.1.173
PMCID: PMC4696950

Genes

CAPN3

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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