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Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia
Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infections. Usually, movement disorder occurs late in t...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996480/ https://www.ncbi.nlm.nih.gov/pubmed/36911447 http://dx.doi.org/10.4103/aian.aian_690_22 |