Molecular diagnosis and diagnosis rate of facio-scapulo-humeral-muscular dystrophy
CUKUROVA MEDICAL JOURNAL, vol.44, pp.8-12, 2019 (ESCI, TRDizin)
- Publication Type: Article / Article
- Volume: 44
- Publication Date: 2019
- Journal Name: CUKUROVA MEDICAL JOURNAL
- Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
- Page Numbers: pp.8-12
- Çukurova University Affiliated: Yes
Abstract
Purpose: Facio-scapulo-humeral-muscular dystrophy is an autosomal dominant muscular disorder and this disease is characterized by weakness of facial, shoulder girdle and upper arm musculature. While typically inherited as autosomal dominant, fascio-scapulo-humeral muscular dystrophy disease has a complex genetic structure. So, it was aimed to evaluate the genetic structure of fascioscapulo-humeral muscular dystrophy with molecular methods in this study.