Novel Variants in
ARSACS
CMT
GJB1
MPV17
PRX
SACS
WES
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
27 01 2023
27 01 2023
Historique:
received:
19
12
2022
revised:
22
01
2023
accepted:
25
01
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Charcot-Marie-Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in
Identifiants
pubmed: 36833258
pii: genes14020328
doi: 10.3390/genes14020328
pmc: PMC9956329
pii:
doi:
Substances chimiques
Heat-Shock Proteins
0
MPV17 protein, human
0
Membrane Proteins
0
Mitochondrial Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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