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

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. OBJECTIVE: In this report, we describe two independent consanguineous families carrying pathogenic var...

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Publicado en:J Neuromuscul Dis
Autores principales: Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Formato: Artigo
Lenguaje:Inglês
Publicado: IOS Press 2020
Materias:
Research Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7458500/
https://ncbi.nlm.nih.gov/pubmed/32444556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-200510
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