Article
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
Muscle & nerve - 1 Oct 2009
O'Rourke Killian, Buddles Mark R, Farrell Michael, Howley Rachel, Sukuraman Sunita, Connolly Sean, Turnbull Douglass M, Hutchinson Michael, Taylor Robert W
Abstract excerpt
We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de...
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