Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.
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.
Sweeney
M G
MG
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Brockington
M
M
Weston
M J
MJ
Morgan-Hughes
J A
JA
Harding
A E
AE
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006333:Heart Failure / Q000235:genetics*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu