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

被引：8

作者：

Brown, MD ^{[1
]}

Hosseini, S

Steiner, I

Wallace, DC

Korn-Lubetzki, I

机构：

[1] Mercer Univ, Sch Med, Div Basic Med Sci, Macon, GA 31207 USA

[2] Emory Univ, Sch Med, Dept Pathol, Atlanta, GA 30322 USA

[3] Hadassah Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

[4] Univ Calif Irvine, MAMMAG, Irvine, CA USA

[5] Bikur Cholim Hosp, Neurol Serv, Jerusalem, Israel

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 02期

关键词：

mitochondria; dystonia; optic atrophy; mtDNA mutations;

D O I：

10.1002/mds.10646

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2003 Movement Disorder Society

引用

页码：235 / 237

页数：3

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