Dystonia‐Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family-Reference-Cited by-同舟云学术

Dystonia‐Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family

Published:2021-11-14 Issue:1 Volume:9 Page:122-124
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Zavala Lucía¹^ORCID,Ziegler Gabriela²^ORCID,Morón Dolores González¹,Garretto Nélida²

Affiliation:

1. Chronic and Hereditary Ataxias Program, Neurogenetics Unit, Department of Neurology J. M. Ramos Mejía Hospital, University Center of Neurology, University of Buenos Aires Buenos Aires Argentina

2. Movement Disorders Section, Department of Neurology J. M. Ramos Mejía Hospital, University Center of Neurology, University of Buenos Aires Buenos Aires Argentina

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13358

Reference10 articles.

1. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

2. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

3. Expanding the Phenotype of Dystonia‐Deafness Syndrome Caused by ACTB Gene Mutation

4. A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia

5. Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

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1. Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome;American Journal of Medical Genetics Part A;2024-05-24

2. Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature;Journal of Clinical Medicine;2024-03-05

3. Inherited Dystonias;Reference Module in Neuroscience and Biobehavioral Psychology;2024

4. Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia;Annals of Indian Academy of Neurology;2023

5. ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome;Parkinsonism & Related Disorders;2022-11