Article
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
Journal of medical genetics - 1 May 2009
Ware S M, El-Hassan N, Kahler S G, Zhang Q, Ma Y-W, Miller E, Wong B, Spicer R L, Craigen W J, Kozel B A, Grange D K, Wong L-J
Abstract excerpt
BACKGROUND: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. METHODS: This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy. RESULTS: In all four, a novel mitochondrial m.8528T-->C mutation was identified. This results in a change of the initiation codon in ATPase 6...
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