Characterization of the renal phenotype in RMND1‐related mitochondrial disease
Characterization of the renal phenotype in RMND1‐related mitochondrial disease
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Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
United States: John Wiley & Sons, Inc
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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 hypotonia, global developmental delay, failure to th...
Alternative Titles
Full title
Characterization of the renal phenotype in RMND1‐related mitochondrial disease
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TN_cdi_doaj_primary_oai_doaj_org_article_5a22357734eb44adac9257ae520ef0ed
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5a22357734eb44adac9257ae520ef0ed
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.973
