Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement

GÜNAY Ç., Paketci C., Edem P., SARIKAYA UZAN G., HIZ A. S., ARSLAN GÜLTEN Z., ...Daha Fazla

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, cilt.12, sa.1, ss.27-36, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.4274/buchd.galenos.2021.5656
  • Dergi Adı: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.27-36
  • Anahtar Kelimeler: Mitochondrial diseases, Leigh disease, Charcot-Marie-Tooth disease, muscle weakness, genetics, LEIGH-SYNDROME, DEFICIENCY, DISORDERS, MUTATIONS, CHILDREN, COHORT
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a substantial place in clinical practice. In this study, the clinical, radiological, electrophysiological and imaging features of the patients with mitochondrial disease with neuromuscular involvement were investigated.