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Article

[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].

Revue neurologique - 1 May 2010

Perez F, Vital A, Martin-Negrier M-L, Ferrer X, Sole G

Abstract excerpt

BACKGROUND: Limb girdle muscular dystrophies are rare genetic diseases. Despite constant progress in genetics and biochemistry, the pathogenic mechanisms are not completely understood. Calpainopathy (LGMD2A) has been reported to be the most frequent autosomal recessive form of muscular dystrophy in several populations. Point mutations in CAPN3 are difficult to identify and the analysis is long and costly. The use...

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Source

Identifiers

PMID: 20044116
DOI: 10.1016/j.neurol.2009.10.015

Genes

CAPN3

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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[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].PMID 20044116Read ↗

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.Semantic proximity Read ↗

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

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.Semantic proximity Read ↗

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

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.Semantic proximity Read ↗

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?Semantic proximity Read ↗

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

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

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

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Clinical variability in calpainopathy: what makes the difference?Semantic proximity Read ↗

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