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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...

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Detalles Bibliográficos
Autores principales: Toko, Megumi, Ohshita, Tomohiko, Kurashige, Takashi, Morino, Hiroyuki, Kume, Kodai, Yamashita, Hiroshi, Sobue, Gen, Iwasaki, Yasushi, Sone, Jun, Kawakami, Hideshi, Maruyama, Hirofumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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