Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

BACKGROUND: Nuclear gene mutations are being increasingly recognised as causes of mitochondrial disease. The nuclear gene RMND1 has recently been implicated in mitochondrial disease, but the spectrum of pathogenic variants and associated phenotype for this gene, has not been fully elucidated. CASE P...

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Publicado en:BMC Res Notes
Main Authors: Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4924262/
https://ncbi.nlm.nih.gov/pubmed/27350610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-016-2131-2
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