Current concepts of mitochondrial disorders in childhood

Astrid Borchert*, Nicole I. Wolf, Ekkehard Wilichowski

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Respiratory chain deficiencies have long been regarded as rare neuromuscular diseases mostly originating from mutations in the mitochondrial genome. Research in the last years has created quite a different picture. The clinical spectrum has expanded to multiorgan disease manifestation, with an estimated minimum incidence in children of 1:11,000. Mutations in the nuclear genome have been discovered in recent years, thereby adding mendelian genetics to the broadened spectrum of mitochondrial disease. This review summarizes recent advances in mitochondrial disorders with a special focus on childhood presentation and therapeutic approaches that may prove useful in the future.

Original languageEnglish
Pages (from-to)151-159
Number of pages9
JournalSeminars in Pediatric Neurology
Issue number2
Publication statusPublished - 2002

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