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A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy

✍ Scribed by Y Campos; J Gámez; A Garcı́a; A.L Andreu; J.C Rubio; M.A Martı́n; P del Hoyo; C Navarro; C Cervera; R Garesse; J Arenas

Book ID
117669397
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
171 KB
Volume
11
Category
Article
ISSN
0960-8966

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A new mtDNA mutation in the tRNALeu(UUR)
A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy
✍ G. Silvestri; F. M. Santorelli; S. Shanske; C. B. Whitley; L. A. Schimmenti; S. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 897 KB

## 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