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Complete mitochondrial DNA sequence analysis in a family with early‐onset dystonia and optic atrophy
Author(s) -
Brown Michael D.,
Hosseini Seyed,
Steiner Israel,
Wallace Douglas C.,
KornLubetzki Isabelle
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10646
Subject(s) - mitochondrial dna , proband , atrophy , mutation , genetics , dystonia , biology , mitochondrion , mitochondrial disease , phenotype , neuroscience , gene
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. © 2003 Movement Disorder Society