CLCN1

CLCN1

A gene on chromosome 7q34 that encodes a voltage-gated chloride channel that regulates the electric excitability of skeletal muscle membranes.
 
Molecular pathology
CLCN1 mutations cause autosomal recessive generalised myotonia congenita (Becker type) and autosomal dominant myotonia (Thomsen disease).
References in periodicals archive ?
MC is caused by mutations in the skeletal muscle chloride channel gene ( CLCN1 [OMIM 118425]) and the skeletal muscle sodium channel gene ( SCN4A [OMIM 603967]).
3) CLCN1 codes for the main skeletal muscle Cl- channel.
In order to find possible mutation in CLCN1 gene, blood sample was collected from the patient after informed consent was obtained according to the protocol approved by the local institutional review board.
Mutations in CLCN1 gene have been shown to cause congenital myotonia.
Noebels, "Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy," Neurology, vol.
El cuadro clinico concuerda con la miotonia de Becker, lo cual se confirmo con el hallazgo de una mutacion responsable de la enfermedad en el gen CLCN1 (Q412P), la cual se encontro en la familia y estuvo ausente en 200 cromosomas provenientes de la poblacion general.
Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene.
The two diseases are associated with mutations in the CLCN1 gene, located in chromosome 7q35.
Mutation analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative paroxysmal kinesigenic dyskinesia patients.
Mutation Analysis of MR-1 , SLC2A1 , and CLCN1 in 28 PRRT2 -negative Paroxysmal Kinesigenic Dyskinesia Patients.
Clinical features were evaluated, and all subjects were screened for MR-1, SLC2A1, and CLCN1 genes, which are the causative genes of paroxysmal nonkinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia, and myotonia congenita (MC), respectively.
We investigated the genetic variants of MR-1 , SLC2A1 , and CLCN1 , which are the causative genes of PNKD, PED, and myotonia congenita (MC), respectively, in these cases.