Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. Hellebrekers, Hubert J. M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number400
Number of pages17
JournalFrontiers in Genetics
Volume9
DOIs
Publication statusPublished - 12 Oct 2018

Keywords

  • mitochondrial disease
  • next-generation sequencing
  • mtDNA sequencing
  • whole-exome sequencing
  • diagnostic yield
  • TRANSFER-RNA-SYNTHETASE
  • HUMAN COMPLEX-I
  • LEIGH-SYNDROME
  • MOLECULAR DIAGNOSIS
  • ASSEMBLY FACTORS
  • LACTIC-ACIDOSIS
  • DNA DELETIONS
  • MUTATIONS
  • DISEASE
  • DISORDERS

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