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Article

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

Biological chemistry - 1 Jan 2005

Jenne Dieter E, Kley Rudi A, Vorgerd Matthias, Schröder J Michael, Weis Joachim, Reimann Heike, Albrecht Beate, Nürnberg Peter, Thiele Holger, Müller Clemens R, Meng Gerhard, Witt Christian C, Labeit Siegfried

Abstract excerpt

Previous family studies revealed a large number of calpain 3 ( CAPN3 ) mutations that cause recessive forms of limb girdle muscular dystrophy (LGMD2A) with selective atrophy of the proximal limb muscles. Correlations between the nature and site of a particular mutation and its corresponding phenotype, however, can only be established from homozygous mutations, which are particularly rare in the alternatively...

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Source

Identifiers

PMID: 15843148
DOI: 10.1515/BC.2005.008

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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