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Unraveling Huntington’s Disease: A Report on Genetic Testing, Clinical Presentation, and Disease Progression

This study presents the clinical features and disease progression of a 39-year-old male patient diagnosed with Huntington's disease (HD). The diagnosis was confirmed by direct genetic testing, using DNA obtained from a blood sample that revealed expanded cytosine-adenine-guanine (CAG) repeats i...

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Detalles Bibliográficos
Autores principales: Ahmed, Moutushi, Mridha, Debasish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494960/
https://www.ncbi.nlm.nih.gov/pubmed/37700984
http://dx.doi.org/10.7759/cureus.43377