A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy-Reference-Cited by-同舟云学术

A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy

Published:2001-07 Issue:7 Volume:16 Page:531-533
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Karadimas Charalampos¹,Tanji Kurenai¹,Geremek Maciej¹,Chronopoulou Penelope¹,Vu Tuan¹,Krishna Sindu¹,Sue Carolyn M.¹,Shanske Sara¹,Bonilla Eduardo¹,DiMauro Salvatore¹,Lipson Mark²,Bachman Ronald²

Affiliation:

1. Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

2. The Permanente Medical Group Inc Oakland, California

Abstract

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 tRNACys 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 hypertrophic cardiomyopathy in childhood. (J Child Neurol 2001;16:531-533).

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/088307380101600715

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