Article
[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family].
Orvosi hetilap - 29 Aug 2004
Komlósi Katalin, Bene Judit, Havasi Viktória, Tihanyi Marianna, Herczegfalvi Agnes, Móser Judit, Melegh Béla
Abstract excerpt
The first Hungarian case with typical features of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) in a young girl is presented. MELAS is a multisystem disorder inherited by the mitochondrial DNA with onset typically in childhood. Our patient presented the first symptoms at the age of 6 years with recurrent vomiting, nausea and transient visual loss. Several stroke-like episodes...
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