Article
Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.
Developmental medicine and child neurology - 1 Jun 2011
Van Karnebeek Clara D M, Waters Paula J, Sargent Michael A, Mezei Michelle M, Mezey Michelle M, Wong Lee-Jun, Wang Jing, Stöckler-Ipsiroglu Sylvia
Abstract excerpt
Diagnosis of mitochondrial disease is often a challenge because of the extreme heterogeneity of the clinical phenotype and the variety of underlying gene defects. Insight into the range of clinical phenotypes associated with a particular mitochondrial DNA mutation will facilitate better recognition of patients at risk by focused gene testing. We present a family affected by the mitochondrial m.13513G>A (p.D393N,...
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