Heterozygous
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
16
10
2019
accepted:
07
11
2019
entrez:
27
3
2020
pubmed:
27
3
2020
medline:
27
3
2020
Statut:
epublish
Résumé
To identify the genetic cause of autosomal dominant ataxia complicated by behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain neuropathologic signatures of dominant Clinical and research-based exome sequencing was used to identify the causative variants for autosomal dominant ataxia in 2 families. Gross and microscopic neuropathologic evaluations were performed on the brains of 4 affected individuals in these families. Mutations in This study confirms a dominant inheritance pattern in
Identifiants
pubmed: 32211513
doi: 10.1212/NXG.0000000000000397
pii: NG2019012260
pmc: PMC7073456
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1-13Subventions
Organisme : NIA NIH HHS
ID : P50 AG005136
Pays : United States
Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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