Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
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Updated: Oct 29, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
I Pénisson-Besnier1, I Richard, F Dubas
1Service de Neurologie A, Hôpital Larrey, CHRU, Angers, France.
Abstract:
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, at the same age, presented a classical phenotype of LGMD in an advanced functional stage.
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