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.
En este trabajo se confirmo el diagnostico clinico presuntivo hecho hace algunos anos en una familia con una condicion miotonica y se reporta una nueva mutacion en el gen CLCN1. El diagnostico clinico se establecio despues de estudios oculares, cardiacos, neurologicos y electrofisiologicos.
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.