КОНЕЧНОСТНО-ПОЯСНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ ТИПА 2А (КПМД2А) — КАЛЬПАИНОПАТИЯ. ОПИСАНИЕ СЛУЧАЯ

Limb girdle muscular dystrophy type 2A - calpainopathy. A case report.  Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) (calpainopathy)  is caused by calpain 3  gene mutation located on chromosome 15q15.1-q21.1. The disease is characterized by ymmetric weakness of pelvic  girdle and abdominal muscles, early contractures of gastrocnemius muscle, posterior group and adductors of thigh  muscles. The article describes a 15 years old boy with LGMDA2. The clinical diagnosis was confirmed with use  of immunoblotting  and DNA analysis. The differencing diagnosis of calpainopathy  with other forms of muscular  dystrophies predominantly with muscle contractions was conducted.