Article
Hearing impairment and renal failure associated with RMND1 mutations.
American journal of medical genetics. Part A - 1 Jan 2016
Ravn Kirstine, Neland Mette, Wibrand Flemming, Duno Morten, Ostergaard Elsebet
Abstract excerpt
Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. A combined respiratory chain deficiency and a defect in mitochondrial protein translation was found. In this study, we report two siblings who are compound heterozygous for the mutations,...
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