КОНЕЧНОСТНО-ПОЯСНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ ТИПА 2А (КПМД2А) — КАЛЬПАИНОПАТИЯ. ОПИСАНИЕ СЛУЧАЯ
2012
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.
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