Characterization of the renal phenotype in RMND1‐related mitochondrial disease

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

Abstract 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 sev...

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Bibliographic Details
Main Authors: Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
chronic kidney disease
Mitochondrial disease
renal transplantation
RMND1
Online Access:https://doi.org/10.1002/mgg3.973

Internet

https://doi.org/10.1002/mgg3.973

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