Article
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
European journal of medical genetics - 1 Oct 2012
Wortmann Saskia B, Champion Michael P, van den Heuvel Lambert, Barth H, Trutnau B, Craig Kate, Lammens Martin, Schreuder Michiel F, Taylor Robert W, Smeitink Jan A M, Wevers Ron A, Rodenburg Richard J, Morava Eva
Abstract excerpt
We present two new patients with the recently described mitochondrial m.3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the clinical presentation is quite different, but characteristic. All three m.3242G > A patients...
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