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Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.

Muscle & nerve - 1 Aug 2015

Fanin Marina, Angelini Corrado

Abstract excerpt

Limb girdle muscular dystrophy type 2A (LGMD2A) is the most frequent form of LGMD worldwide. Comprehensive clinical assessment and laboratory testing is essential for diagnosis of LGMD2A. Muscle immunoblot analysis of calpain-3 is the most useful tool to direct genetic testing, as detection of calpain-3 deficiency has high diagnostic value. However, calpain-3 immunoblot testing lacks sensitivity in about 30% of...

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PMID: 25900067
DOI: 10.1002/mus.24682

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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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