Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing-Reference-Cited by-同舟云学术

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Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

Published:2015-12-31 Issue:2 Volume:12 Page:109-117
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Hong Hyun Dae¹,Kim Eunja²,Nam Soo Hyun¹,Yoo Da Hye¹,Suh Bum Chun³,Choi Byung-Ok²,Chung Ki Wha¹

Affiliation:

1. Department of Biological Sciences, Kongju National University, Gongju, Korea

2. Department of Neurology and Neuroscience Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

3. Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2015/012/JGM-12-109.pdf

Reference42 articles.

1. Mitochondrial disorders

2. Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, and Carrara F et al. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1993;1:80-7.

3. A Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap Syndrome

4. Hearing Impairment Is Common in Various Phenotypes of the Mitochondrial DNA A3243G Mutation

5. Mitochondrial Cytopathies

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