Brown Michael D, Hosseini Seyed, Steiner Israel, Wallace Douglas C, Korn-Lubetzki Isabelle
Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, Georgia 31207, USA.
Mov Disord. 2004 Feb;19(2):235-7. doi: 10.1002/mds.10646.
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.
