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    Muscle Nerve. 1998 Aug;21(8):1078-80.

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

    Pénisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M.

    Service de Neurologie A, Hôpital Larrey, CHRU, Angers, France.

    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.

    PMID: 9655129 [PubMed - indexed for MEDLINE]

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