Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns

Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns–Sayre Syndrome

Published:2020-08-01 Issue:8 Volume:39 Page:1449-1457
ISSN:1044-5498
Container-title:DNA and Cell Biology
language:en
Short-container-title:DNA and Cell Biology

Author:

Guo Luo¹²,Wang Xin³⁴,Ji Haiting¹²⁵

Affiliation:

1. State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, ENT Institute and Otorhinolaryngology Department, Fudan University Eye & ENT Hospital, Shanghai, People's Republic of China.

2. NHC Key Laboratory of Hearing Medicine and Fudan University, Shanghai, People's Republic of China.

3. Institutes of Biomedical Sciences, Fudan University, Shanghai, People's Republic of China.

4. Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Nantong University, Nantong, People's Republic of China.

5. Department of Otorhinolaryngology, Affiliated Eye and ENT Hospital of Fudan University, Shanghai, China.

Publisher

Mary Ann Liebert Inc

Subject

Cell Biology,Genetics,Molecular Biology,General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/dna.2019.5010

Reference26 articles.

1. Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript

2. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

3. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

4. Mitochondria: Dynamic Organelles in Disease, Aging, and Development

5. 2016: A ‘Mitochondria’ Odyssey

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