Article
A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
Italian heart journal : official journal of the Italian Federation of Cardiology - 1 Jun 2004
Menotti Francesca, Brega Agnese, Diegoli Marta, Grasso Maurizia, Modena Maria Grazia, Arbustini Eloisa
Abstract excerpt
BACKGROUND: Pathological mutations of mitochondrial (mt) DNA may cause specific diseases such as cardiomyopathies or hearing loss, or syndromes such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome. We describe a novel mtDNA mutation in a patient with severe hypertrophic cardiomyopathy associated with MELAS. The familial phenotype included 1) hypertrophic...
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