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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Pubblicato in:Mol Genet Genomic Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900359/
https://ncbi.nlm.nih.gov/pubmed/31568715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.973
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