Adult-onset KMT2B-related dystonia.
DYT28
KMT2B
dystonia
genetics
hearing loss
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2022
2022
Historique:
received:
14
02
2022
revised:
30
08
2022
accepted:
24
10
2022
entrez:
9
12
2022
pubmed:
10
12
2022
medline:
10
12
2022
Statut:
epublish
Résumé
KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability and short stature. Disease onset occurs typically before 10 years of age. We report the clinical and genetic findings of a series of subjects affected by adult-onset dystonia, hearing loss or intellectual disability carrying rare heterozygous
Identifiants
pubmed: 36483457
doi: 10.1093/braincomms/fcac276
pii: fcac276
pmc: PMC9724767
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcac276Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.
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