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Article

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Muscle & nerve - 1 Aug 1998

Pénisson-Besnier I, Richard I, Dubas F, Beckmann J S, Fardeau M

Abstract excerpt

Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother,...

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Identifiers

PMID: 9655129
DOI: 10.1002/(sici)1097-4598(199808)21:8<1078::aid-mus15>3.0.co;2-q

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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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