Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder

Complex I, the largest multisubunit enzyme complex of the respiratory chain, has a vital role in the energy production of the cell, and the clinical spectrum of complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults. Pathogenic variants of NDUFS3 (constitutes...

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Detalles Bibliográficos
Autores principales: Samanta, Debopam, Veerapandiyan, Aravindhan, Burrow, Thomas A, Gokden, Murat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757518/
https://www.ncbi.nlm.nih.gov/pubmed/36531773
http://dx.doi.org/10.4103/jpn.JPN_182_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757518/
https://www.ncbi.nlm.nih.gov/pubmed/36531773
http://dx.doi.org/10.4103/jpn.JPN_182_20

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