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Article

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

Neuromuscular disorders : NMD - 1 Feb 2007

Stehlíková Kristýna, Zapletalová Eva, Sedlácková Jana, Hermanová Markéta, Vondrácek Petr, Maríková Tat'ána, Mazanec Radim, Zámecník Josef, Vohánka Stanislav, Fajkus Jirí, Fajkusová Lenka

Abstract excerpt

Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been identified to date. We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR, and at the DNA level using PCR and...

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Source

Identifiers

PMID: 17157502
DOI: 10.1016/j.nmd.2006.10.001

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.PMID 17157502Read ↗

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