Article
A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.
Turkish journal of medical sciences - 1 Jan 2024
Şahin İzem Olcay, Karataş Emine, Demir Mikail, Tan Büşra, Per Hüseyin, Özkul Yusuf, Dündar Munis
Abstract excerpt
Background and aim: Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders. The disease is caused by defects in the CAPN3 gene and can be inherited in both recessive and dominant forms. In this retrospective study, we aimed to evaluate the clinical and molecular results of our patients with calpainopathy...
Topics
- Humans
- Retrospective Studies
- Muscular Dystrophies, Limb-Girdle
- Turkey
- Male
- Calpain
- Female
- Muscle Proteins
- Adult
- Young Adult
- Adolescent
- Mutation
- Middle Aged
- Child
- Cohort Studies