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Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
BACKGROUND: Variants in the valosin-containing protein (VCP) gene were identified as one of the causes for inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (FTD). Previously identified pathogenic variants in VCP are associated with frontotemporal lobar de...
Autores principales: | Kobayashi, Ryota, Naruse, Hiroya, Kawakatsu, Shinobu, Iseki, Chifumi, Suzuki, Yuya, Koyama, Shingo, Morioka, Daichi, Ishiura, Hiroyuki, Mitsui, Jun, Ohta, Yasuyuki, Tsuji, Shoji, Toda, Tatsushi, Otani, Koichi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632072/ https://www.ncbi.nlm.nih.gov/pubmed/36329418 http://dx.doi.org/10.1186/s12883-022-02951-4 |
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