PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS

Two siblings originating from Reunion Island were affected by a limb-g irdle muscular dystrophy (LGMD) type 2A and carried the same two mutat ions in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpai n-3 mutations, Onset was around 20 years of age in each of them. The g irl's symptoms mimicked a metabolic myopathy, while her brother, at th e same age, presented a classical phenotype of LGMD in an advanced fun ctional stage. (C) 1998 John Wiley & Sons, Inc.