MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions

This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome and Kearns–Sayre syndrome (KSS). He was admitted to our hospital with the chief complain...

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Detalhes bibliográficos
Publicado no:eNeurologicalSci
Main Authors: Yu, Nian, Zhang, Yan-fang, Zhang, Kang, Xie, Yuan, Lin, Xing-jian, Di, Qing
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803102/
https://ncbi.nlm.nih.gov/pubmed/29430542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ensci.2016.04.006
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