Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement

GÜNAY, ÇAĞATAY; Paketci, Cem; Edem, Pinar; SARIKAYA UZAN, GAMZE; HIZ, AYŞE; ARSLAN GÜLTEN, ZÜMRÜT; Kisa, Pelin; ARSLAN, NUR; YİŞ, ULUÇ

doi:10.4274/buchd.galenos.2021.5656

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, TRDizin)

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
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.