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Q J Med. 1993 Jul;86(7):435-8.

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.

Author information

1
University Department of Clinical Neurology, Institute of Neurology, London, UK.

Abstract

A family with maternally inherited myopathy and cardiomyopathy is described. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 3260 in the leucine transfer RNA gene, previously reported in a large Italian family with a similar phenotype. This observation confirms pathogenicity of this mutation and suggests phenotypic specificity.

PMID:
8210299
[Indexed for MEDLINE]

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