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Article

Molecular genetic study of Calpainopathy in Iran.

Gene - 30 Nov 2018

Mojbafan Marzieh, Khajeh Ali, Habibi Haleh, Bagherian Hamideh, Zeinali Sirous

Abstract excerpt

INTRODUCTION: Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+-dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming. Using autozygosity mapping is an effective...

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Source

Identifiers

PMID: 30056071
DOI: 10.1016/j.gene.2018.07.067

Genes

CAPN3
DYSF
SGCA
SGCB
SGCD
SGCG

Provenance

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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