Limb Girdle Muskuler Distrofi Tip 2a: Vaka Sunumu

Limb Girdle Muscular Disease (LGMD) comprise a group of inherited muscular distrophy with chronic progressive weakness hip and shoulder girdles. The inheritance pattern is either autosomal dominant (LGMD1) or recessive (LGMD2). LGMD 2A known as calpainopathy in which there was defect gene encoding the protein named calpain. There are three phenotypes according to distribution muscle age at onset. In this report, we presented an asymptomatic child persistant hyper CKemia diagnosed biopsy genetic testing. Genetical examination results patient showed homozygote mutation CAPN3 gene(c.2092C>A) parents revealed that they were heterozygous unaffected carriers.