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Case report and literature review of Huntington disease with intermediate CAG expansion

BACKGROUND: Huntington disease (HD) is a genetically inherited neurodegenerative disorder that classically involves a trinucleotide CAG repeat expansion on chromosome 4, with 36 repeats or greater being disease identifying. It generally presents between the age of 30 and 40 years old and is characte...

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Detalhes bibliográficos
Publicado no:BMJ Neurol Open
Main Authors: Jevtic, Stefan D, Provias, John P
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7871728/
https://ncbi.nlm.nih.gov/pubmed/33681777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjno-2019-000027
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