Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation

Mitochondrial dysfunction can be associated with a range of clinical manifestations. Here, we report a family with a complex phenotype including combinations of connective tissue, neurological, and metabolic symptoms that were passed on to all surviving children. Analysis of the maternally inherited...

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Detalles Bibliográficos
Autores principales: Schaefer, Patrick M., Scherer Alves, Leonardo, Lvova, Maria, Huang, Jessica, Rathi, Komal, Janssen, Kevin, Butic, Arrienne, Yardeni, Tal, Morrow, Ryan, Lott, Marie, Murdock, Deborah, Song, Angela, Keller, Kierstin, Garcia, Benjamin A., Francomano, Clair A., Wallace, Douglas C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659340/
https://www.ncbi.nlm.nih.gov/pubmed/36322731
http://dx.doi.org/10.1073/pnas.2212417119

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