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Author Notes:

Correspondence to: Dr. Xuyang Liu, Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, P.R. China; Phone: (86) 28-85164067; FAX: (86)28-85164005; email: xliu1213@yahoo.com.cn

Dr. Ronghua Li and Dr. Xuyang Liu contributed equally to the science of the project and can be considered as co-corresponding authors.

The authors wish to thank Dr. Yun Yuan from Beijing University First Hospital for histological examination.

Subjects:

A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family

Tools:

Journal Title:

Molecular Vision

Volume:

Volume 25, Number 16

Publisher:

, Pages 1736-1742

Type of Work:

Article | Final Publisher PDF

Abstract:

Abstract Purpose: To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister. Methods: The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a muscle biopsy of the patient. All mitochondrial gene DNA fragments of the patient, her mother, and younger sister were amplified by polymerase chain reaction. The products were sequenced and compared with reference databases. Results: A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNAVal gene and the tRNAGly gene, respectively, in the patient, her mother, and younger sister. The T1658C mutation changes the T loop structure of mitochondrial tRNAVal and the A10006G mutation disturbs the D loop of mitochondrial tRNAGly. Conclusions: The T1658C and A10006G mutations of mtDNA may be responsible for the pathogenesis of the patient with CPEO.

Copyright information:

© 2010 Molecular Vision.

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommerical-NoDerivs 3.0 Unported License (http://creativecommons.org/licenses/by-nc-nd/3.0/).

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