Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome. (2020)

First Author: Echaniz-Laguna A
Attributed to:  Periodic paralysis: from molecules to mice funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1136/jnnp-2020-323173

PubMed Identifier: 32487525

Publication URI: http://europepmc.org/abstract/MED/32487525

Type: Journal Article/Review

Volume: 91

Parent Publication: Journal of neurology, neurosurgery, and psychiatry

Issue: 8

ISSN: 0022-3050