Reversion of mtDNA depletion in a patient with TK2 deficiency

被引：44
|
作者：
Vilà, MR
Segovia-Silvestre, T
Gámez, J
Marina, A
Naini, AB
Meseguer, A
Lombès, A
Bonilla, E
DiMauro, S
Hirano, M
Andreu, AL
机构：
[1] Hosp Gen Valle Hebron, CIBBIM, Barcelona 08035, Spain
[2] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
[3] Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biophys, New York, NY 10032 USA
[4] Hosp Gen Valle Hebron, Dept Neurol, Barcelona 08035, Spain
[5] Hop La Pitie Salpetriere, INSERM, UR523, Inst Mycol, Paris, France
来源：
NEUROLOGY | 2003年 / 60卷 / 07期
关键词：
D O I：
10.1212/01.WNL.0000055928.58122.47
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Mutations in the thymidine kinase 2 (TK2) gene cause a myopathic form of the mitochondrial DNA depletion syndrome (MDS). Here, the authors report the unusual clinical, biochemical, and molecular findings in a 14-year-old patient in whom pathogenic mutations were identified in the TK2 gene. This report extends the phenotypic expression of primary TK2 deficiency and suggests that factors other than TK2 may modify expression of the clinical phenotype in patients with MDS syndrome.
引用
收藏
页码：1203 / 1205
页数：3
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