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FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
BACKGROUND: Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions. Differentiating these diseases are difficult because of the similarity in their clinical and radiological features. It is u...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8513318/ https://www.ncbi.nlm.nih.gov/pubmed/34641814 http://dx.doi.org/10.1186/s12883-021-02425-z |