Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Rick Kamps, Radek Szklarczyk, Tom E. Theunissen, Debby M. E. I. Hellebrekers, Suzanne C. E. H. Sallevelt, Iris B. Boesten, Bart de Koning, Bianca J. van den Bosch, Gajja S. Salomons, Marisa Simas-Mendes, Rob Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Jo M. Vanoevelen, Hubert J. M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)537-551
Number of pages15
JournalEuropean Journal of Human Genetics
Volume26
Issue number4
DOIs
Publication statusPublished - 1 Apr 2018

Keywords

  • TRANSFER-RNA-SYNTHETASE
  • EXOME SEQUENCING REVEALS
  • LACTIC-ACIDOSIS
  • HYPERTROPHIC CARDIOMYOPATHY
  • PERIPHERAL NEUROPATHY
  • PERRAULT SYNDROME
  • LEIGH-SYNDROME
  • HEARING-LOSS
  • MUTATIONS
  • DEFICIENCIES

Cite this