Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
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Penisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
Muscle Nerve. 1998 Aug;21(8):1078-80.
- PubMed ID
- 9655129 [ View in PubMed]
- 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.