Case Report: Association of a Variant of Unknown Significance in the
FIG4
amyotrophic lateral sclerosis
dementia
genetics
neurodegeneration
Journal
Frontiers in neuroscience
ISSN: 1662-4548
Titre abrégé: Front Neurosci
Pays: Switzerland
ID NLM: 101478481
Informations de publication
Date de publication:
2020
2020
Historique:
received:
27
05
2020
accepted:
23
11
2020
entrez:
11
1
2021
pubmed:
12
1
2021
medline:
12
1
2021
Statut:
epublish
Résumé
Modern genetics have in many ways revolutionized clinical routine and have, for instance, shown that formerly distinct disease entities relate to common pathogenic mutations. One such example is the connection between dementia and amyotrophic lateral sclerosis (ALS) in a continuous disease spectrum affirmed by the discovery of shared mutations. We describe a new variant in the We describe a variant in the
Sections du résumé
BACKGROUND
BACKGROUND
Modern genetics have in many ways revolutionized clinical routine and have, for instance, shown that formerly distinct disease entities relate to common pathogenic mutations. One such example is the connection between dementia and amyotrophic lateral sclerosis (ALS) in a continuous disease spectrum affirmed by the discovery of shared mutations.
CASE REPORT
METHODS
We describe a new variant in the
CONCLUSION
CONCLUSIONS
We describe a variant in the
Identifiants
pubmed: 33424531
doi: 10.3389/fnins.2020.559670
pmc: PMC7793702
doi:
Types de publication
Case Reports
Langues
eng
Pagination
559670Informations de copyright
Copyright © 2020 Bergner, Neuhofer, Funke, Biskup, von Gottberg, Bartels, Koch and Radenbach.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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