Article
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.
Annals of neurology - 1 Apr 2004
McFarland Robert, Schaefer Andrew M, Gardner Julie L, Lynn Stephen, Hayes Christine M, Barron Martin J, Walker Mark, Chinnery Patrick F, Taylor Robert W, Turnbull Douglass M
Abstract excerpt
We have defined the genetic defect in a large family first described in one of the earliest reports of suspected mitochondrial myopathy, as the mutation T14709C in the mitochondrial transfer RNA(Glu) (mt-tRNA(Glu)) gene. Extraordinarily, this mutation has attained homoplasmy (100% mutated mt-tRNA(Glu)) on at least three independent occasions in this family and has done so in one individual who remains...
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