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

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

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