NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René Feichtinger (Co-author), Eliška Koňařiková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gusic, Andreas Koller (Co-author), Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia Wortmann (Co-author), Wolfgang Sperl (Co-author), Agnès Rötig, Holger ProkischEwa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr* (Last author)

*Corresponding author for this work

Research output: Contribution to journalOriginal Articlepeer-review

43 Citations (Web of Science)
Original languageEnglish
Pages (from-to)460-467
JournalAMERICAN JOURNAL OF HUMAN GENETICS
Volume102
Issue number3
DOIs
Publication statusPublished - 2018

Keywords

  • RESPIRATORY-CHAIN DEFICIENCY
  • ACAD9 MUTATIONS
  • DISEASE
  • ARCHITECTURE
  • DIAGNOSIS
  • FEATURES

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