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Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

✍ Scribed by Isabelle Pénisson-Besnier; Isabelle Richard; Frédéric Dubas; Jacques S. Beckmann; Michel Fardeau

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
168 KB
Volume
21
Category
Article
ISSN
0148-639X

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✦ Synopsis

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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