| http://purl.uniprot.org/citations/27048647 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27048647 | http://www.w3.org/2000/01/rdf-schema#comment | "Over 60 mutations of SCN4A encoding the NaV1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy. Most mutations are missense with gain-of-function defects that cause susceptibility to myotonia or periodic paralysis. Loss-of-function from enhanced inactivation or null alleles is rare and has been associated with myasthenia and congenital myopathy, while a mix of loss and gain of function changes has an uncertain relation to hypokalaemic periodic paralysis. To better define the functional consequences for a loss-of-function, we generated NaV1.4 null mice by deletion of exon 12. Heterozygous null mice have latent myasthenia and a right shift of the force-stimulus relation, without evidence of periodic paralysis. Sodium current density was half that of wild-type muscle and no compensation by retained expression of the foetal NaV1.5 isoform was detected. Mice null for NaV1.4 did not survive beyond the second postnatal day. This mouse model shows remarkable preservation of muscle function and viability for haploinsufficiency of NaV1.4, as has been reported in humans, with a propensity for pseudo-myasthenia caused by a marginal Na(+) current density to support sustained high-frequency action potentials in muscle."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.org/dc/terms/identifier | "doi:10.1093/brain/aww070"xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/author | "Fu Y."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/author | "Mi W."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/author | "Wu F."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/author | "Cannon S.C."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/author | "Struyk A."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/name | "Brain"xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/pages | "1688-1699"xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/title | "Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis."xsd:string |
| http://purl.uniprot.org/citations/27048647 | http://purl.uniprot.org/core/volume | "139"xsd:string |
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