A NEW MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH MITOCHONDRIAL MYOPATHY - TRNA(LEU(UUR)) 3254C-TO-G

Authors
KAWARAI T KAWAKAMI H KOZUKA K IZUMI Y MATSUYAMA Z WATANABE C KOHRIYAMA T NAKAMURA S
Citation
T. Kawarai et al., A NEW MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH MITOCHONDRIAL MYOPATHY - TRNA(LEU(UUR)) 3254C-TO-G, Neurology, 49(2), 1997, pp. 598-600
Citations number
10
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
49
Issue
2
Year of publication
1997
Pages
598 - 600
Database
ISI
SICI code
0028-3878(1997)49:2<598:ANMMAW>2.0.ZU;2-6
Abstract
We investigated a patient with mitochondrial myopathy accompanied by c ardiomyopathy. Molecular analysis disclosed a C-to-G substitution at n ucleotide position 3254 of the mitochondrial tRNA(Leu(UUR)). Pedigree analysis revealed that this mutation was inherited maternally. Mutatio n C3254G may also be a candidate for genetic defects in mitochondrial myopathy.