Mild phenotypic expression of α-N-acetylgalactosaminidase deficiency in two adult siblings

Pseudometabolic expression and phenotypi

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

✍ Isabelle Pénisson-Besnier; Isabelle Richard; Frédéric Dubas; Jacques S. Beckmann 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 2 views

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 w