Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
Adolescent
Adult
Age of Onset
Aged
Asian People
/ genetics
Charcot-Marie-Tooth Disease
/ diagnosis
Child
Child, Preschool
Connexins
/ genetics
Female
GTP Phosphohydrolases
/ genetics
Genetic Profile
HSP27 Heat-Shock Proteins
/ genetics
Heat-Shock Proteins
Humans
Infant
Infant, Newborn
Japan
Male
Middle Aged
Mitochondrial Proteins
/ genetics
Molecular Chaperones
Myelin P0 Protein
/ genetics
Myelin Proteins
/ genetics
Nerve Tissue Proteins
/ genetics
Neurofilament Proteins
/ genetics
Young Adult
Gap Junction beta-1 Protein
charcot-marie-tooth disease
gene panel
molecular epidemiology
next generation sequencing
Journal
Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
16
05
2018
revised:
19
08
2018
accepted:
26
08
2018
pubmed:
28
9
2018
medline:
18
12
2019
entrez:
28
9
2018
Statut:
ppublish
Résumé
OBJECTIVE : To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT). METHODS: From May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas
Identifiants
pubmed: 30257968
pii: jnnp-2018-318839
doi: 10.1136/jnnp-2018-318839
pmc: PMC6518473
doi:
Substances chimiques
Connexins
0
GDAP protein
0
HSP27 Heat-Shock Proteins
0
HSPB1 protein, human
0
Heat-Shock Proteins
0
MPZ protein, human
0
Mitochondrial Proteins
0
Molecular Chaperones
0
Myelin P0 Protein
0
Myelin Proteins
0
Nerve Tissue Proteins
0
Neurofilament Proteins
0
PMP22 protein, human
0
neurofilament protein L
0
GTP Phosphohydrolases
EC 3.6.1.-
MFN2 protein, human
EC 3.6.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
195-202Informations de copyright
© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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