Article
Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.
Neuromuscular disorders : NMD - 1 Dec 2013
Mastaglia F L, Rojana-udomsart A, James I, Needham M, Day T J, Kiers L, Corbett J A, Saunders A M, Lutz M W, Roses A D
Abstract excerpt
A polyT repeat in an intronic polymorphism (rs10524523) in the TOMM40 gene, which encodes an outer mitochondrial membrane translocase involved in the transport of amyloid-β and other proteins into mitochondria, has been implicated in Alzheimer's disease and APOE-TOMM40 genotypes have been shown to modify disease risk and age at onset of symptoms. Because of the similarities between Alzheimer's disease and...
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