The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathy

Mutations in the valosin-containing protein (VCP) gene are known to cause various neurodegenerative disorders. Here, we report 8 Japanese patients [6 men, 2 women; median age at onset: 49.5 (range, 35–58) years] from 5 unrelated families with VCP missense mutations. Although 7 of 8 patients were dia...

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Veröffentlicht in:	Neurobiology of aging 2021-04, Vol.100, p.120.e1-120.e6
Hauptverfasser:	Ando, Takashi, Nakamura, Ryoichi, Kuru, Satoshi, Yokoi, Daichi, Atsuta, Naoki, Koike, Haruki, Suzuki, Masashi, Hara, Kazuhiro, Iguchi, Yohei, Harada, Yumiko, Yoshida, Yusuke, Hattori, Makoto, Murakami, Ayuka, Noda, Seiya, Kimura, Seigo, Sone, Jun, Nakamura, Tomohiko, Goto, Yoji, Mano, Kazuo, Okada, Hisashi, Okuda, Satoshi, Nishino, Ichizo, Ogi, Tomoo, Sobue, Gen, Katsuno, Masahisa
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic lateral sclerosis Demyelinating polyneuropathy Frontotemporal dementia Inclusion body myopathy Valosin-containing protein
Online-Zugang:	Volltext
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