Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the a...

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Detalles Bibliográficos
Autores principales: Moeller, Ashley A., Felker, Marcia V., Brault, Jennifer A., Duncan, Laura C., Hamid, Rizwan, Golomb, Meredith R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371413/
https://www.ncbi.nlm.nih.gov/pubmed/34423068
http://dx.doi.org/10.1177/2329048X211036137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371413/
https://www.ncbi.nlm.nih.gov/pubmed/34423068
http://dx.doi.org/10.1177/2329048X211036137

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