Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Michael D. Brown, Seyed Hosseini, Israel Steiner, Douglas C. Wallace, Isabelle Korn-Lubetzki

Research output: Contribution to journalArticlepeer-review

Abstract

The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNAGly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

Original languageEnglish
Pages (from-to)235-237
Number of pages3
JournalMovement Disorders
Volume19
Issue number2
DOIs
StatePublished - 2004
Externally publishedYes

Keywords

  • Dystonia
  • Mitochondria
  • MtDNA mutations
  • Optic atrophy

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