| Literature DB >> 8210299 |
M G Sweeney1, M Brockington, M J Weston, J A Morgan-Hughes, A E Harding.
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.Entities:
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Year: 1993 PMID： 8210299
Source DB: PubMed Journal: Q J Med ISSN： 0033-5622