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

Article

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

The Quarterly journal of medicine - 1 Jul 1993

Sweeney M G, Brockington M, Weston M J, Morgan-Hughes J A, Harding A E

Abstract excerpt

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 pathog...

Topics

Adult
DNA, Mitochondrial
Electrophoresis, Agar Gel
Female
Heart Failure
Humans
Male
Muscular Diseases
Mutation
Pedigree
RNA, Transfer, Leu

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.