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Article

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

European journal of human genetics : EJHG - 1 May 2009

Fanin Marina, Nascimbeni Anna Chiara, Tasca Elisabetta, Angelini Corrado

Abstract excerpt

Limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy) is the most frequent form of LGMD in many European countries. The increasing demand for a molecular diagnosis makes the identification of strategies to improve gene mutation detection crucial. We conducted both a quantitative analysis of ca...

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Share to Calpain
Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Immunoblotting

Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 18854869
DOI: 10.1038/ejhg.2008.193
PMCID: PMC2986267

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18854869-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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