Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

BACKGROUND: Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) and nuclear genome or both have been reported in mitochondrial diseases suggesting common pathophysiological pathways. Considering the...

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Detalles Bibliográficos
Autores principales: Chakrabarty, Sanjiban, Govindaraj, Periyasamy, Sankaran, Bindu Parayil, Nagappa, Madhu, Kabekkodu, Shama Prasada, Jayaram, Pradyumna, Mallya, Sandeep, Deepha, Sekar, Ponmalar, J. N. Jessiena, Arivinda, Hanumanthapura R., Meena, Angamuthu Kanikannan, Jha, Rajan Kumar, Sinha, Sanjib, Gayathri, Narayanappa, Taly, Arun B., Thangaraj, Kumarasamy, Satyamoorthy, Kapaettu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8179915/
https://www.ncbi.nlm.nih.gov/pubmed/33484326
http://dx.doi.org/10.1007/s00415-020-10390-9

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