Genetic analysis of facioscapulohumeral muscular dystrophy patients in Mediterranean region of Turkey: a retrospective study

HANGÜL C., Sahan O. B., UYSAL H., KARAÜZÜM S., Koc F.

CUKUROVA MEDICAL JOURNAL, cilt.44, ss.1-7, 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.1-7
  • Çukurova Üniversitesi Adresli: Evet

Özet

Purpose: Facioscapulohumeral Muscular Dystrophy is the third most common dystrophy among all dystrophies. Clinical diagnosis has to be confirmed by molecular diagnosis by revealing the shortened allele of D4Z4 macrosatellite repeat on chromosome 4. The aim of this study is to investigate whether there is a decrease in the number of D4Z4 repeats in patients with FSHD and whether the decreasing number of repeats is similar.