A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia
Mov Disord
.
2022 Aug;37(8):1774-1776.
doi: 10.1002/mds.29054.
Epub 2022 May 12.
Authors
Johanna Schöggl
1
,
Sandy Siegert
1
,
Eugen Boltshauser
2
,
Michael Freilinger
1
,
Wolfgang M Schmidt
3
Affiliations
1
Department of Pediatric and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
2
Department of Pediatric Neurology (Emeritus), University Children's Hospital Zurich, Zurich, Switzerland.
3
Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
PMID:
35560436
PMCID:
PMC9544690
DOI:
10.1002/mds.29054
No abstract available
Publication types
Letter
MeSH terms
Cerebellar Ataxia* / complications
Cerebellar Ataxia* / genetics
Humans
Mutation / genetics
Mutation, Missense / genetics
Pedigree