Recessive CLCN1 mutation presenting as thomsen disease

2008 ◽  
Vol 38 (5) ◽  
pp. 1515-1517 ◽  
Author(s):  
Judy Thomas ◽  
Jack Tarleton ◽  
Steven K. Baker
Keyword(s):  
Clcn1 Mutation

scholarly journals Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Michael G. Thor ◽  
Vinojini Vivekanandam ◽  
Marisol Sampedro-Castañeda ◽  
S. Veronica Tan ◽  
Karen Suetterlin ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Phenotypic Variability ◽  
Transmembrane Helix ◽  
Periodic Paralysis ◽  
Loss Of Function ◽  
Leak Current ◽  
Muscle Action Potential ◽  
Arginine Residues ◽  
Pore Domain ◽  
Clcn1 Mutation

AbstractThe sarcolemmal voltage gated sodium channel NaV1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential. It contains four voltage-sensing domains (VSDs) that regulate the opening of the pore domain and ensuing permeation of sodium ions. Mutations that lead to increased NaV1.4 currents are found in patients with myotonia or hyperkalaemic periodic paralysis (HyperPP). Myotonia is also caused by mutations in the CLCN1gene that result in loss-of-function of the skeletal muscle chloride channel ClC-1. Mutations affecting arginine residues in the fourth transmembrane helix (S4) of the NaV1.4 VSDs can result in a leak current through the VSD and hypokalemic periodic paralysis (HypoPP), but these have hitherto not been associated with myotonia. We report a patient with an Nav1.4 S4 arginine mutation, R222Q, presenting with severe myotonia without fulminant paralytic episodes. Other mutations affecting the same residue, R222W and R222G, have been found in patients with HypoPP. We show that R222Q channels have enhanced activation, consistent with myotonia, but also conduct a leak current. The patient carries a concomitant synonymous CLCN1 variant that likely worsens the myotonia and potentially contributes to the amelioration of muscle paralysis. Our data show phenotypic variability for different mutations affecting the same S4 arginine that have implications for clinical therapy.

scholarly journals Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

1998 ◽  
Vol 64 (4) ◽  
pp. 543-547 ◽  
Author(s):  
F L Mastaglia ◽  
N Harker ◽  
B A Phillips ◽  
T J Day ◽  
G J Hankey ◽  
...  
Keyword(s):  
Proximal Myotonic Myopathy ◽  
Clcn1 Mutation

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

2021 ◽  
Author(s):  
Sara Locci ◽  
Rosanna Cardani ◽  
Paola Brunori ◽  
Sabrina Lucchiari ◽  
Giacomo P. Comi ◽  
...  
Keyword(s):  
Clcn1 Mutation

scholarly journals Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

PLoS ONE ◽  
2020 ◽  
Vol 15 (5) ◽  
pp. e0233017
Author(s):  
Chenyu Zhao ◽  
DongFang Tang ◽  
Hui Huang ◽  
Haiyan Tang ◽  
Yuan Yang ◽  
...  
Keyword(s):  
Consanguineous Marriage ◽  
Myotonia Congenita ◽  
Clcn1 Mutation

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

2011 ◽  
Vol 80 (6) ◽  
pp. 574-580 ◽  
Author(s):  
C Sun ◽  
M Van Ghelue ◽  
L Tranebjaerg ◽  
F Thyssen ◽  
Ø Nilssen ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonia Congenita ◽  
Clcn1 Mutation ◽  
Znf9 Gene

A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization

2011 ◽  
Vol 494 (2) ◽  
pp. 155-160 ◽  
Author(s):  
Akira Tsujino ◽  
Muneshige Kaibara ◽  
Hideki Hayashi ◽  
Hiroto Eguchi ◽  
Susumu Nakayama ◽  
...  
Keyword(s):  
Chloride Conductance ◽  
Myotonia Congenita ◽  
Clcn1 Mutation

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease

2010 ◽  
Vol 41 (3) ◽  
pp. 412-415 ◽  
Author(s):  
Kishore R. Kumar ◽  
Karl Ng ◽  
Himesha Vandebona ◽  
Mark R. Davis ◽  
Carolyn M. Sue
Keyword(s):  
Mild Phenotype ◽  
Clcn1 Mutation

scholarly journals Reduced Current Density and Surface Expression of a CLCN1 Mutation Causing Dominant or Recessive Myotonia in Costa Rica

2014 ◽  
Vol 106 (2) ◽  
pp. 147a
Author(s):  
Michele Fiore ◽  
Raul Estevez ◽  
Héctor Gaitán-Peñas ◽  
Mauricio Ezpinoza ◽  
Melissa Vásquez ◽  
...  
Keyword(s):  
Costa Rica ◽  
Current Density ◽  
Surface Expression ◽  
Clcn1 Mutation

Novel N-terminal truncating CLCN1 mutation in severe becker disease

2014 ◽  
Vol 50 (5) ◽  
pp. 866-867 ◽  
Author(s):  
Franziska Hoche ◽  
Kay Seidel ◽  
Eduardo Barbosa-Sicard ◽  
Tonio Heidegger ◽  
Jun-Suk Kang ◽  
...  
Keyword(s):  
Clcn1 Mutation

Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome

2007 ◽  
Vol 23 (2) ◽  
pp. 163-166 ◽  
Author(s):  
Geneviève Bernard ◽  
Chantal Poulin ◽  
Jack Puymirat ◽  
Damien Sternberg ◽  
Michael Shevell
Keyword(s):  
Dosage Effect ◽  
Clcn1 Mutation
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