Characterization of the renal phenotype in RMND1‐related mitochondrial disease

BACKGROUND: The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1‐related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infantile‐onset multisystem disease characterized by severe hypo...

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Detalles Bibliográficos
Autores principales: Shayota, Brian J., Le, Nhon T., Bekheirnia, Nasim, Rosenfeld, Jill A., Goldstein, Amy C., Moritz, Michael, Bartholomew, Dennis W., Pastore, Matthew T., Xia, Fan, Eng, Christine, Yang, Yaping, Lamb, Dolores J., Scaglia, Fernando, Braun, Michael C., Bekheirnia, Mir Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900359/
https://www.ncbi.nlm.nih.gov/pubmed/31568715
http://dx.doi.org/10.1002/mgg3.973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900359/
https://www.ncbi.nlm.nih.gov/pubmed/31568715
http://dx.doi.org/10.1002/mgg3.973

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