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., ...More

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.12, no.1, pp.27-36, 2022 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.4274/buchd.galenos.2021.5656
  • Journal Name: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.27-36
  • Keywords: Mitochondrial diseases, Leigh disease, Charcot-Marie-Tooth disease, muscle weakness, genetics
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.