Article
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
BMC research notes - 27 Jun 2016
Gupta Asheeta, Colmenero Isabel, Ragge Nicola K, Blakely Emma L, He Langping, McFarland Robert, Taylor Robert W, Vogt Julie, Milford David V
Abstract excerpt
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 PRESENTATION: An 11-month-old boy presented with renal impairment associated with a truncal ataxia, bilateral...
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