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Article

Calpain-3 mutations in Turkey.

European journal of pediatrics - 1 May 2006

Balci Burcu, Aurino Stefania, Haliloglu Göknur, Talim Beril, Erdem Sevim, Akcören Zuhal, Tan Ersin, Caglar Melda, Richard Isabelle, Nigro Vincenzo, Topaloglu Haluk, Dincer Pervin

Abstract excerpt

Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement of the proximal limb girdle muscles; the group includes at least 10 different genetic entities. The calpainopathies (LGMD2A), a subgroup of LGMD2s, are estimated to be the most common forms of LGMD2 in all populations so far investigated. LGMD2A...

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Source

Identifiers

PMID: 16411092
DOI: 10.1007/s00431-005-0046-3

Genes

CAPN3

Variants

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.

Related research

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Calpain-3 mutations in Turkey.PMID 16411092Read ↗

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Semantic proximity Read ↗

Molecular genetic study of Calpainopathy in Iran.Semantic proximity Read ↗

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.Semantic proximity Read ↗

Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.Semantic proximity Read ↗

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.Semantic proximity Read ↗

Calpainopathy-a survey of mutations and polymorphisms.Semantic proximity Read ↗

Muscle pathology in 31 patients with calpain 3 gene mutations..Semantic proximity Read ↗

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.Semantic proximity Read ↗

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.Semantic proximity Read ↗

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.Semantic proximity Read ↗

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.Semantic proximity Read ↗

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.Semantic proximity Read ↗

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