A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia
Mov Disord Clin Pract
.
2018 Nov 12;6(2):171-173.
doi: 10.1002/mdc3.12699.
eCollection 2019 Feb.
Authors
Gloria Ortega-Suero
1
,
Marta Fernández-Matarrubia
1
,
Eva López-Valdés
2
,
Javier Arpa
1
Affiliations
1
Neurogenetics Unit, Department of Neurology Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC) Madrid Spain.
2
Movement Disorders Unit, Department of Neurology Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC) Madrid Spain.
PMID:
30838318
PMCID:
PMC6384180
DOI:
10.1002/mdc3.12699
No abstract available
Keywords:
OPA1, OPA1‐related disorders; cervical dystonia; optic atrophy 1 gene.
Publication types
Case Reports