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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Detalles Bibliográficos
Autores principales: Yu, Nian, Zhang, Yan-fang, Zhang, Kang, Xie, Yuan, Lin, Xing-jian, Di, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803102/
https://www.ncbi.nlm.nih.gov/pubmed/29430542
http://dx.doi.org/10.1016/j.ensci.2016.04.006

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