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

✍ Scribed by Michael D. Brown; Seyed Hosseini; Israel Steiner; Douglas C. Wallace; Isabelle Korn-Lubetzki

Book ID: 102500115
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 46 KB
Volume: 19
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.10646

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✦ Synopsis

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 tRNA(Gly) 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.

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