Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

L. Guo, P. Govindaraj, M. Kievit, I.F.M. de Coo, M. Gerards, D.M.E.I. Hellebrekers, A.P.M. Stassen, N. Gayathri, A.B. Taly, B.P. Sankaran, H.J.M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)859-864
Number of pages6
JournalNeuromuscular Disorders
Volume31
Issue number9
DOIs
Publication statusPublished - 1 Sep 2021

Keywords

  • Whole exome sequencing
  • C1QBP gene
  • Progressive external ophthalmoplegia
  • Multiple mtDNA deletions
  • CELL-METABOLISM
  • MITOCHONDRIAL
  • VARIANTS

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