Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on...

Full description

Bibliographic Details
Main Authors: Ando, M. (Author), Hashiguchi, A. (Author), Higuchi, Y. (Author), Hiramatsu, Y. (Author), Hobara, T. (Author), Ishiura, H. (Author), Kojima, F. (Author), Mitsui, J. (Author), Noguchi, Y. (Author), Okamoto, Y. (Author), Sakiyama, Y. (Author), Takashima, H. (Author), Takei, J. (Author), Takeuchi, M. (Author), Taniguchi, T. (Author), Tsuji, S. (Author), Yoshimura, A. (Author), Yuan, J. (Author)
Format: Article
Language:English
Published: MDPI 2022
Subjects:
Charcot–Marie–Tooth (CMT)
gene panel sequencings
inherited peripheral neuropathies (IPNs)
RFC1
Online Access:View Fulltext in Publisher

Internet

View Fulltext in Publisher

Similar Items