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Case Reports
. 1998 Aug;21(8):1078-80.
doi: 10.1002/(sici)1097-4598(199808)21:8<1078::aid-mus15>3.0.co;2-q.

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

I Pénisson-Besnier  1 , I Richard, F Dubas, J S Beckmann, M Fardeau
Affiliations
Case Reports

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

I Pénisson-Besnier et al. Muscle Nerve. 1998 Aug.

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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