A rare P2RX7 variant in a Hungarian family with multiple sclerosis

Mult Scler Relat Disord. 2019 Jan:27:340-341. doi: 10.1016/j.msard.2018.10.110. Epub 2018 Oct 27.

Authors

Tobias Zrzavy¹, Reka Kovacs-Nagy², Eva Reinthaler¹, Angela Deutschländer³, Christiane Schmied¹, Barbara Kornek¹, Fritz Leutmezer¹, Alexander Zimprich⁴

Affiliations

¹ Department of Neurology, Medical University of Vienna, Austria.
² Institute of Human Genetics, Technische Universität München, Munich, Germany.
³ Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Department of Neurology and Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA.
⁴ Department of Neurology, Medical University of Vienna, Austria. Electronic address: alexander.zimprich@meduniwien.ac.at.

PMID: 30472412
DOI: 10.1016/j.msard.2018.10.110

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Aged
Family
Female
Genetic Predisposition to Disease
Humans
Hungary
Male
Multiple Sclerosis / genetics*
Mutation, Missense*
Pedigree
Polymorphism, Single Nucleotide*
Receptors, Purinergic P2X7 / genetics*
White People / genetics
Young Adult

Substances

P2RX7 protein, human
Receptors, Purinergic P2X7