Abstract

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

Keywords: Biopsy, Calpainopathy, Muscle, Muscular dystrophy, Limb girdle muscular distrophy

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Copyright and license

How to cite

1.
Yılmaz A, Uslu Gökçeoğlu A, Talim B, Bakır A, Atay N. Limb Girdle Muskuler Distrofi Tip 2a: Vaka Sunumu. Turk J Pediatr Dis [Internet]. 2022 Sep. 20 [cited 2025 May 25];16(5):451-4. Available from: https://turkjpediatrdis.org/article/view/860