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Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature

BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two decades of life with a broad, multi‐syst...

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Detalles Bibliográficos
Autores principales: Seed, Lydia M., Dean, Andrew, Krishnakumar, Deepa, Phyu, Poe, Horvath, Rita, Harijan, Pooja Devi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266612/
https://www.ncbi.nlm.nih.gov/pubmed/35474314
http://dx.doi.org/10.1002/mgg3.1955