Mutation spectrum and health status in skeletal muscle channelopathies in Japan

Sasaki, Ryogen; Nakaza, Maki; Furuta, Mitsuru et al.

Neuromuscular Disorders, 2020, 30(7), 546-553

Number of Access:954（2025-08-01 07:21 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/85460

Link to primary information 

File Format Terms of use Size Views Date.Available Description information
64004_1 pdf None 868 KB 409 2021.12.27  
Creative Commons : Attribution - NonCommercial - NoDerivatives

Item Information

Output File Export EndNote Basic Export Mendeley

Title
Mutation spectrum and health status in skeletal muscle channelopathies in Japan
Creator
NRID
1000060303723 1000060303723
CreatorName
Sasaki, Ryogen
CreatorName
Nakaza, Maki
CreatorName
Furuta, Mitsuru
NRID
1000020707343 1000020707343
ORCID
0000-0002-8889-1199 0000-0002-8889-1199
researchmap permalink
haruofujino haruofujino
Scopus Author ID
56065490900 56065490900
CreatorName
Fujino, Haruo
NRID
1000020573231 1000020573231
ORCID
0000-0003-1004-8537 0000-0003-1004-8537
researchmap permalink
n-phys n-phys
Scopus Author ID
26633163700 26633163700
CreatorName
Kubota, Tomoya
NRID
1000020359847 1000020359847
researchmap permalink
mtakahas mtakahas
Scopus Author ID
15038719500 15038719500
CreatorName
Takahashi, Masanori P.
Subject
Skeletal muscle channelopathies
Non-dystrophic myotonia
Periodic paralysis
CLCN1
SCN4A
CACNA1S
Abstract
Skeletal muscle channelopathies, including non-dystrophic myotonia and periodic paralysis, are rare hereditary disorders caused by mutations of various ion channel genes. To define the frequency of associated mutations of skeletal muscle channelopathies in Japan, clinical and genetic data of two academic institutions, which provides genetic analysis service, were reviewed. Of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [CLCN1 (n = 30) and SCN4A (n = 36)], 11 were hyperkalemic periodic paralysis (SCN4A), and 28 were hypokalemic periodic paralysis [CACNA1S (n = 16) and SCN4A (n = 12)]. Of the 30 families with myotonia congenita, dominant form (Thomsen type) consisted 67%, and unique mutations, A298T, P480T, T539A, and M560T, not found in Western countries, were commonly identified in CLCN1. Hypokalemic periodic paralysis caused by SCN4A mutations consisted 43% in Japan, which was much higher than previous reports. Furthermore, the quality of life of the patients was assessed using the patient-reported outcome measures, SF-36 and INQoL, for 41 patients. This study indicated that the etiology of skeletal muscle channelopathies in Japan was not identical to previous reports from Western countries, and provided crucial information for genetics as well as future therapeutic interventions.
Publisher
Elsevier Ltd
Source Title
Neuromuscular Disorders
Volume (Issue)
30(7)
Page
546-553
Date of Issued
2020-07-01
Language
English
Handle URL
https://hdl.handle.net/11094/85460
PISSN
09608966
eISSN
18732364
NCID
AA10836389
Relation.isVersionOf
DOI (Publisher Version)
https://doi.org/10.1016/j.nmd.2020.06.001
Relation.isIdenticalTo
PMID
32660787
Access Rights
open access
CopyRight
© 2020 Elsevier B.V. This manuscript version is made available under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
oaire:version
Accepted Manuscript
Category
学術雑誌論文 Journal Article