Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias

BACKGROUND: Heteroplasmic mitochondrial 3697G>A mutation has been associated with leber hereditary optic neuropathy (LHON), mitochondrial encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), and LHON/MELAS overlap syndrome. However, homoplasmic m.3697G>A mutation was only found in...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Zhong, Shanshan, Wen, Shumeng, Qiu, Yusen, Yu, Yanyan, Xin, Ling, He, Yang, Gao, Xuguang, Fang, Hezhi, Hong, Daojun, Zhang, Jun
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418351/
https://ncbi.nlm.nih.gov/pubmed/30623604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.541
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