Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene-Reference-Cited by-同舟云学术

Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene

Published:2016-07-08 Issue:2 Volume:4 Page:266-269
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Rossi Malco¹,Medina Escobar Alex¹,Radrizzani Martin²,Tenembaum Silvia³,Perandones Claudia⁴⁵,Merello Marcelo¹⁵^ORCID

Affiliation:

1. Movement Disorders Section Neuroscience Department Raul Carrea Institute for Neurological Research (FLENI) Buenos Aires Argentina

2. Laboratory of Neuro and Molecular Cytogenetic (CONICET) School of Sciences and Technology CESyMA National University of San Martin Buenos Aires Argentina

3. Department of Pediatric Neurology National Pediatric Hospital Dr. Juan P. Garrahan Buenos Aires Argentina

4. Scientific and Technological Coordination Unit of the ANLIS Directorate National Administration of Laboratories and Institutes of Health, Dr. Carlos G. Malbran Buenos Aires Argentina

5. Argentine National Scientific and Technological Research Council (CONICET) Buenos Aires Argentina

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.12397

Reference11 articles.

1. Patient homozygous for a recessive POLG mutation presents with features of MERRF

2. Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

3. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

4. Mutations of mitochondrial DNA polymerase ?A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

5. Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations

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