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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

โœ Scribed by Zeviani, M.; Gellera, C.; Antozzi, C.; Rimoldi, M.; Morandi, L.; Tiranti, V.; DiDonato, S.; Villani, F.


Book ID
123433933
Publisher
The Lancet
Year
1991
Tongue
English
Weight
759 KB
Volume
338
Category
Article
ISSN
0140-6736

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A new mtDNA mutation in the tRNALeu(UUR)
โœ G. Silvestri; F. M. Santorelli; S. Shanske; C. B. Whitley; L. A. Schimmenti; S. ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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