Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

OKTAY, YAVUZ; GÜNGÖR, SERDAL; Zeltner, Lena; Wiethoff, Sarah; Schoels, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Topf, Ana; YİŞ, ULUÇ; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, AYŞE; Lochmueller, Hanns; Schuele, Rebecca; Horvath, Rita

doi:10.3233/jnd-200510

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

OKTAY Y., GÜNGÖR S., Zeltner L., Wiethoff S., Schoels L., Sonmezler E., ...Daha Fazla

JOURNAL OF NEUROMUSCULAR DISEASES, cilt.7, sa.3, ss.301-308, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 7 Sayı: 3
Basım Tarihi: 2020
Doi Numarası: 10.3233/jnd-200510
Dergi Adı: JOURNAL OF NEUROMUSCULAR DISEASES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.301-308
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.