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Paper Details

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Cold Spring Harb Mol Case Stud
10
2016
C10orf2, C10orf2 gene, C10orf2 mutations, IOSCA, R302W, Twinkle, Twinkle helicase, Twinkle mitochondrial DNA helicase, Twinkle mutations, ataxia, c.333delT, c.904C, girl, helicase, hypergonadotropic hypogonadism, infantile-onset cerebellar ataxia, mitochondrial, mitochondrial DNA, multisystemic disorder, multisystemic neuromuscular disorders, nuclear genes, oligomeric ring, optic atrophy, patient, peripheral neuropathy, severe hearing loss, spinocerebellar ataxia
Author NameAffiliation
Sarah B PierceUniversity of Washington
Sarah B PierceUniversity of Washington
Tom WalshUniversity of Washington
Tom WalshUniversity of Washington
Ming K LeeUniversity of Washington
Ming K LeeUniversity of Washington
Mary-Claire KingUniversity of Washington
Mary-Claire KingUniversity of Washington
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Release 1.2