Article
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
Molecular genetics and metabolism - 1 Feb 2005
Anitori Roberto, Manning Kara, Quan Franklin, Weleber Richard G, Buist Neil R M, Shoubridge Eric A, Kennaway Nancy G
Abstract excerpt
We studied three patients, each harboring a novel mutation at a highly conserved position in a different mitochondrial tRNA gene. The mutation in patient 1 (T5543C) was associated with isolated mitochondrial myopathy, and occurred in the anticodon loop of tRNA(Trp). In patient 2, with mitochondrial myopathy and marked retinopathy, the mutation (G14710A) resulted in an anticodon swap (Glu to Lys) in tRNA(Glu)....
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