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The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

Livesey, K J; Wimhurst, V; Carter, K; Worwood, M; Cadet, E; Rochette, J; Roberts, Andrew A; Pointon, J; Merryweather-Clarke, A; Bassett, Mark; Jouanolle, A; Mosser, A; David, V; Poulton, J; Robson, K J H


Background: Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the HFE gene. They hove variable expression of iron overload and present with a variety of complications, including liver disease, diabetes, arthropathy, fatigue, and cardiomyopathy. The mitochondrial 16189 variant is associated with diabetes, dilated cardiomyopathy, and low body fat at birth, and might contribute to genetic predisposition in further multifactorial disorders. The...[Show more]

CollectionsANU Research Publications
Date published: 2004
Type: Journal article
Source: Journal of Medical Genetics


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