A new mtDNA mutation in the tRNALeu(UUR)
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G. Silvestri; F. M. Santorelli; S. Shanske; C. B. Whitley; L. A. Schimmenti; S.
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Article
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1994
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John Wiley and Sons
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English
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## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li