Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement
IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.12, no.1, pp.27-36, 2022 (ESCI, TRDizin)
- 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.