AOPEP Homozygous Loss-of-Function Variant in an Indian Patient with Early-Onset Generalized Dystonia
Mov Disord
.
2022 Apr;37(4):874-875.
doi: 10.1002/mds.28928.
Epub 2022 Jan 24.
Authors
Christina Fevga
1
,
Federico Ferraro
1
,
Guido J Breedveld
1
,
Charulata Savant Sankhla
2
,
Vincenzo Bonifati
1
Affiliations
1
Department of Clinical Genetics, University Medical Center, Erasmus MC, Rotterdam, the Netherlands.
2
Department of Neurology, P D Hinduja National Hospital, Mumbai, India.
PMID:
35072283
PMCID:
PMC9305163
DOI:
10.1002/mds.28928
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Asian People
Dystonia* / genetics
Dystonic Disorders* / genetics
Homozygote
Humans
Mutation / genetics