Molecular diagnosis and diagnosis rate of facio-scapulo-humeral-muscular dystrophy


BİŞGİN A. , Bozdogan S. T. , Koc F.

CUKUROVA MEDICAL JOURNAL, vol.44, pp.8-12, 2019 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 44
  • Publication Date: 2019
  • Title of Journal : CUKUROVA MEDICAL JOURNAL
  • Page Numbers: pp.8-12

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.