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Article

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

European journal of medical genetics - 1 Jan 2015

Semaka Alicia, Kay Chris, Belfroid René D M, Bijlsma Emilia K, Losekoot Monique, van Langen Irene M, van Maarle Merel C, Oosterloo Mayke, Hayden Michael R, van Belzen Martine J

Abstract excerpt

New mutations for Huntington disease (HD) originate from CAG repeat expansion of intermediate alleles (27-35 CAG). Expansions of such alleles into the pathological range (≥ 36 CAG) have been exclusively observed in paternal transmission. We report the occurrence of a new mutation that defies the paternal expansion bias normally observed in HD. A maternal intermediate allele with 33 CAG repeats expanded in...

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Identifiers

PMID: 25464109
DOI: 10.1016/j.ejmg.2014.11.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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