A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy

We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in life as sudden cardiac death or as mi...

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Veröffentlicht in:	Human mutation 1994, Vol.3 (1), p.37-43
Hauptverfasser:	Silvestri, G, Santorelli, F M, Shanske, S, Whitley, C B, Schimmenti, L A, Smith, S A, DiMauro, S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence Cardiomyopathy, Dilated - genetics Child Citrate (si)-Synthase - analysis DNA Mutational Analysis DNA, Mitochondrial - analysis DNA, Mitochondrial - genetics Female Humans Infant Male Middle Aged Mitochondrial Myopathies - genetics Molecular Sequence Data Muscles - enzymology Myocardium - enzymology Nucleic Acid Conformation Oxidoreductases - analysis Pedigree Point Mutation - genetics Polymorphism, Restriction Fragment Length RNA, Transfer, Leu - chemistry RNA, Transfer, Leu - genetics
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