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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Detalles Bibliográficos
Autores principales: Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924262/
https://www.ncbi.nlm.nih.gov/pubmed/27350610
http://dx.doi.org/10.1186/s13104-016-2131-2

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