Coenzyme Q deficiency in two unrelated patients-molecular studies

Zoltan Vajo, Arnold Munnich, Douglas J. Wilkin, Eliot A. Brinton

Research output: Contribution to journalReview article


Coenzyme Q (CoQ) is a key lipid component in the mitochondrial respiratory chain. Unambiguous and severe CoQ deficiency associated with encephalomyopathy has been reported in only two patients. We tested both patients for mutations in the COQ7 cDNA, the only identified human gene involved in CoQ biosynthesis and show that their CoQ deficiency does not result from mutations in the COQ7 Coding region. It is possible the CoQ deficiency in these individuals results from a mutation in another yet unidentified CoQ biosynthesis gene.

Original languageEnglish
Pages (from-to)69-72
Number of pages4
JournalPediatric Pathology and Molecular Medicine
Issue number1
Publication statusPublished - Jan 1 2000


  • Coenzyme Q

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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