FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, FBXL4 mutations result in the encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13; OMIM #615471), which commonly...

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Detalles Bibliográficos
Autores principales: Ballout, Rami A., Al Alam, Chadi, Bonnen, Penelope E., Huemer, Martina, El-Hattab, Ayman W., Shbarou, Rolla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370620/
https://www.ncbi.nlm.nih.gov/pubmed/30804983
http://dx.doi.org/10.3389/fgene.2019.00039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370620/
https://www.ncbi.nlm.nih.gov/pubmed/30804983
http://dx.doi.org/10.3389/fgene.2019.00039

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