Focal neuromyotonia associated with a C9ORF72 expansion mutation

Muscle Nerve. 2020 Oct;62(4):E63-E65. doi: 10.1002/mus.27009. Epub 2020 Aug 5.

Authors

Francesco Fortunato¹, Giuseppe Bonapace², Rosa Gullace², Monica Gagliardi³, Rita Nisticò³, Paola Valentino¹, Antonio Gambardella^{1

3}

Affiliations

¹ Institute of Neurology, Magna Graecia University, Catanzaro, Italy.
² Department of Medical and Surgical Science, Magna Graecia University, Catanzaro, Italy.
³ Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.

PMID: 32578243
DOI: 10.1002/mus.27009

No abstract available

Keywords: C9ORF72 expansion; amyotrophic lateral sclerosis; neuromyotonia; phenotypic variation.

Publication types

Case Reports
Letter

MeSH terms

C9orf72 Protein / genetics*
DNA Repeat Expansion*
Humans
Isaacs Syndrome / genetics*
Male
Middle Aged
Mutation*

Substances

C9orf72 Protein