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Neurology. 1997 Aug;49(2):598-600.

A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.

Author information

1
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.

Abstract

We investigated a patient with mitochondrial myopathy accompanied by cardiomyopathy. Molecular analysis disclosed a C-to-G substitution at nucleotide position 3254 of the mitochondrial tRNA(Leu)(UUR). Pedigree analysis revealed that this mutation was inherited maternally. Mutation C3254G may also be a candidate for genetic defects in mitochondrial myopathy.

PMID:
9270605
DOI:
10.1212/wnl.49.2.598
[Indexed for MEDLINE]

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