Article
Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.
American journal of medical genetics. Part A - 1 May 2015
Uhlmann Wendy R, Peñaherrera Maria S, Robinson Wendy P, Milunsky Jeff M, Nicholson Jane M, Albin Roger L
Abstract excerpt
Patients with biallelic mutations for Huntington disease (HD) are rare. We present a 46-year-old female with two expanded Huntingtin (HTT) alleles with just one known affected parent. This is the first reported patient with molecular studies performed to exclude HTT uniparental disomy (UPD). The proband had biparental inheritance of HTT alleles (42/44 CAG repeats). Given the negative UPD results, the proband's...
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