Clinical features of inherited neuropathy with BSCL2 mutations in Japan-Reference-Cited by-同舟云学术

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

Published:2020-03-12 Issue:2 Volume:25 Page:125-131
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Ishihara Satoshi¹²^ORCID,Okamoto Yuji¹,Tanabe Hajime¹^ORCID,Yoshimura Akiko¹,Higuchi Yujiro¹,Yuan Jun‐Hui¹,Hashiguchi Akihiro¹^ORCID,Ishiura Hiroyuki³^ORCID,Mitsui Jun³^ORCID,Suwazono Shugo⁴^ORCID,Oya Yasushi⁵,Sasaki Masayuki⁶,Nakagawa Masanori⁷,Tsuji Shoji³^ORCID,Ohya Yusuke²,Takashima Hiroshi¹

Affiliation:

1. Department of Neurology and GeriatricsKagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan

2. Department of Cardiovascular Medicine, Nephrology and Neurology, Graduate School of MedicineUniversity of the Ryukyus Okinawa Japan

3. Department of Neurology, Graduate School of MedicineThe University of Tokyo Tokyo Japan

4. National Hospital Organization Okinawa National Hospital Okinawa Japan

5. Department of NeurologyNational Center of Neurology and Psychiatry Tokyo Japan

6. Department of Child NeurologyNational Center of Neurology and Psychiatry Tokyo Japan

7. North Medical CenterKyoto Prefectural University of Medicine Kyoto Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12369

Reference22 articles.

1. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

2. Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

3. Identification of de novoBSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy

4. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

5. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

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