Article
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
Journal of inherited metabolic disease - 1 Nov 2012
de Laat Paul, Koene Saskia, van den Heuvel Lambert P W J, Rodenburg Richard J T, Janssen Mirian C H, Smeitink Jan A M
Abstract excerpt
The m.3243A>G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described,most frequently being Maternally Inherited Diabetes and Deafness (MIDD). The m.3243A>G mutation, can be detected in virtually all tissues, however heteroplasmy differs between samples. Recent reports indicate, a preference to perform mutation analysis in Urinary...
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