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Mitochondrial DNA transfer RNA mutation <sup>LEU(UUR)A→G 3260</sup>: a second family with myopathy and cardiomyopathy
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1993
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GeneticsSecond FamilyMolecular BiologyPathologyMitochondrial Dna AnalysisMolecular GeneticsDisease Gene IdentificationMitochondrial MyopathyMendelian DisorderMitochondrial BiogenesisLeber Hereditary Optic NeuropathyMolecular DiagnosticsCardiomyopathyDna ReplicationPosition 3260Large Italian FamilyMitochondrial FunctionGenetic DisorderNatural SciencesMedicineA→g 3260
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.