Article
Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.
Pediatric nephrology (Berlin, Germany) - 1 Aug 1999
Cheong H I, Chae J H, Kim J S, Park H W, Ha I S, Hwang Y S, Lee H S, Choi Y
Abstract excerpt
Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial DNA, which is known to be associated with most cases of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics of hereditary progressive glomerular disease and hearing loss with Alport syndrome. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.