Huntington's disease: how intermediate are intermediate repeat lengths?
Identifieur interne : 000D64 ( Main/Exploration ); précédent : 000D63; suivant : 000D65Huntington's disease: how intermediate are intermediate repeat lengths?
Auteurs : Ferdinando Squitieri [Italie] ; Joseph Jankovic [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- Alleles, Humans, Mutation, Phenotype.
Abstract
Huntington's disease (HD) is a devastating heredoneurodegenerative disorder associated with a wide variety of neurological and psychiatric symptoms caused by an expanded CAG repeat in the HTT gene. The expansion mutation in HTT is dominantly transmitted and codes for a protein named huntingtin (htt).
DOI: 10.1002/mds.25172
PubMed: 23008174
Affiliations:
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Le document en format XML
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