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

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

JOURNAL OF NEUROMUSCULAR DISEASES, vol.7, no.3, pp.301-308, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.3233/jnd-200510
  • Journal Name: JOURNAL OF NEUROMUSCULAR DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.301-308
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.