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

BİŞGİN A., Bozdogan S. T., Koc F.

CUKUROVA MEDICAL JOURNAL, cilt.44, ss.8-12, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.8-12
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.