Article
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Journal of medical genetics - 1 Jan 2004
Livesey K J, Wimhurst V L C, Carter K, Worwood M, Cadet E, Rochette J, Roberts A G, Pointon J J, Merryweather-Clarke A T, Bassett M L, Jouanolle A-M, Mosser A, David V, Poulton J, Robson K J H
Abstract excerpt
BACKGROUND: Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the HFE gene. They have 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...
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