A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy

被引：14

作者：

Karadimas, C

Tanji, K

Geremek, M

Chronopoulou, P

Vu, T

Krishna, S

Sue, CM

Shanske, S

Bonilla, E

DiMauro, S

Lipson, M

Bachman, R

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Permanente Med Grp Inc, Oakland, CA USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2001年 / 16卷 / 07期

关键词：

D O I：

10.1177/088307380101600715

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a heteroplasmic A5814G point mutation in the tRNA(Cys) gene. The mutational load was extremely high (> 95%) in muscle, fibroblasts, and blood. This report expands the clinical heterogeneity of the A5814G mutation, which should be considered in the differential diagnosis of hytertrophic cardiomyopathy in childhood.

引用

页码：531 / 533

页数：3

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