A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

Clin Genet. 2016 Dec;90(6):556-557. doi: 10.1111/cge.12851. Epub 2016 Sep 16.

Authors

Y Wang¹, K Koh¹, Y Ichinose¹, M Yasumura², T Ohtsuka², Y Takiyama¹

Affiliations

¹ Department of Neurology, University of Yamanashi, Yamanashi 409-3898, Japan.
² Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi 409-3898, Japan.

PMID: 27633718
DOI: 10.1111/cge.12851

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Arthrogryposis / genetics*
Cerebellar Ataxia / genetics*
Humans
Intellectual Disability / genetics*
Ion Channels
Membrane Proteins
Mutation*
Sodium Channels / genetics*

Substances

Ion Channels
Membrane Proteins
NALCN protein, human
Sodium Channels