Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency

M. Naber, D. Hellebrekers, R.A.J. Nievelstein, P.M. van Hasselt, R.H. van Jaarsveld, I. Cuppen, R. Oegema

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number104120
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume64
Issue number1
DOIs
Publication statusPublished - 1 Jan 2021

Keywords

  • children
  • complex 1 deficiency
  • genetics
  • intronic variant
  • leigh
  • mitchondrial disease
  • mitochondrial complex
  • timmdc1
  • TIMMDC1
  • Complex 1 deficiency
  • MITOCHONDRIAL COMPLEX
  • CHILDREN
  • Genetics
  • Mitchondrial disease
  • Intronic variant
  • LEIGH

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