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Authors
Hiramuki, Yosuke
Kure, Yuriko
Saito, Yoshihiko
Ogawa, Megumu
Ishikawa, Keiko
Mori-Yoshimura, Madoka
Oya, Yasushi
Takahashi, Yuji
Kim, Dae-Seong
Arai, Noriko
Mori, Chiaki
Matsumura, Tsuyoshi
Hamano, Tadanori
Nakamura, Kenichiro
Ikezoe, Koji
Hayashi, Shinichiro
Goto, Yuichi
Noguchi, Satoru https://orcid.org/0000-0001-6165-3716
Nishino, Ichizo
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Funding
Funding for this research was provided by:
Neurological and Psychiatric Disorders of NCNP (3-9, 2-6, 2-5, 2-5)
AMED (22ek0109490h0003)
Nippon Shinyaku (2021-Category B)
KAKENHI (21K15689)
FSHD Society (FSHD-Fall2020-5973845533)
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Article History
Received: 11 September 2022
Accepted: 30 October 2022
First Online: 8 November 2022
Declarations
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: Samples and data were collected between January 1978 and December 2021 from the National Center of Neurology and Psychiatry registry. Fourteen patients were selected, of whom five had 1, 2, 3, 4, or 5 D4Z4 RUs, while data were inconsistent for seven patients, and two patients showed no bands on linear Southern blotting of genomic DNA samples extracted from peripheral blood lymphocytes. The oldest clinical description available for each patient (data at hospital inspection) was reviewed. Clinical characteristics and the results of Southern blotting are described in Tables and , respectively. Fibroblasts from Patient 1 were obtained from the NCNP Biobank. This study was approved by the ethics committee of the National Center of Neurology and Psychiatry, Japan.
: Materials used in this study were obtained for diagnostic purposes with written informed consent. All participants were enrolled after providing informed consent.
: The authors declare that they have no competing interests.
