Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
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.
Pénisson-Besnier
I
I
Service de Neurologie A, Hôpital Larrey, CHRU, Angers, France.
Richard
I
I
Dubas
F
F
Beckmann
J S
JS
Fardeau
M
M
D000328:Adult; D001284:Atrophy; D002154:Calpain / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D009679:Nuclear Family; D010641:Phenotype; D017508:Reunion
D002154:Calpain