Heterozygous variants in
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
06
03
2020
accepted:
31
08
2020
entrez:
19
11
2020
pubmed:
20
11
2020
medline:
20
11
2020
Statut:
epublish
Résumé
To perform a comprehensive characterization of a cohort of patients with congenital mirror movements (CMMs) in Sweden. Clinical examination with the Woods and Teuber scale for mirror movements (MMs), neuroimaging, navigated transcranial magnetic stimulation (nTMS), and massive parallel sequencing (MPS) were applied. The cohort is ethnically diverse and includes a total of 7 patients distributed in 2 families and 2 sporadic cases. The degree of MMs was variable in this cohort. MPS revealed 2 novel heterozygous frameshift variants in DCC netrin 1 receptor ( The presence of chorea expands the clinical spectrum of syndromes associated with variants in
Identifiants
pubmed: 33209984
doi: 10.1212/NXG.0000000000000526
pii: NG2020013177
pmc: PMC7670573
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e526Informations 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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