Homozygous <scp> <i>THAP1</i> </scp> pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction-Reference-Cited by-同舟云学术

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Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction

Published:2022-10-07 Issue:1 Volume:191 Page:289-291
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Bird Miranda F.¹,Myers Kenneth A.²³⁴

Affiliation:

1. Faculty of Medicine and Health Sciences McGill University Quebec Canada

2. Child Health and Human Development Program Research Institute of the McGill University Health Centre Quebec Canada

3. Division of Neurology, Department of Pediatrics Montreal Children's Hospital, McGill University Health Centre Quebec Canada

4. Department of Neurology and Neurosurgery McGill University Health Centre Quebec Canada

Funder

Fonds de Recherche du Québec - Santé

Savoy Foundation

Dravet Canada

Citizens United for Research in Epilepsy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62985

Reference8 articles.

1. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

2. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

3. Complex dystonias: an update on diagnosis and care

4. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

5. Spasmodic Dysphonia

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