A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Debby M. E. I. Hellebrekers*, Emma L. Blakely, Alexandra T. M. Hendrickx, Steven A. Hardy, Sila Hopton, Gavin Falkous, Irenaeus F. M. de Coo, Hubert J. M. Smeets, Nadine M. E. van der Beek, Robert W. Taylor

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)693-697
Number of pages5
JournalNeuromuscular Disorders
Volume29
Issue number9
DOIs
Publication statusPublished - Sep 2019

Keywords

  • Mitochondrial disease
  • Chronic progressive external ophthalmoplegia
  • Myopathy
  • mtDNA variant
  • m.4414T>C
  • MTTM
  • MUTATION
  • ASSAY

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