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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...
Autores principales: | Samanta, Debopam, Veerapandiyan, Aravindhan, Burrow, Thomas A, Gokden, Murat |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2021
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Materias: | |
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 |
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