Page last updated: 2024-10-17

chlorine and Batten Turner Congenital Myopathy

chlorine has been researched along with Batten Turner Congenital Myopathy in 19 studies

chloride : A halide anion formed when chlorine picks up an electron to form an an anion.

Research Excerpts

ExcerptRelevanceReference
"Myotonia congenita is a genetic condition that is caused by mutations in the muscle chloride channel gene CLCN1 and characterized by delayed muscle relaxation and muscle stiffness."1.38Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. ( Becher, T; Begemann, B; Fahlke, C; Fischer, M; Jurkat-Rott, K; Lehmann-Horn, F; Sternberg, D; Weinberger, S; Wojciechowski, D, 2012)
"We report here a family with myotonia congenita characterized by muscle stiffness and clinical and electrophysiologic myotonic phenomena transmitted in an autosomal dominant pattern."1.38Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1. ( Chen, TY; Lee, TT; Maselli, RA; Richman, DP; Tang, CY; Tseng, PY; Yu, WP; Yu, Y, 2012)
"The cause of increased excitability in autosomal dominant myotonia congenita (MyC) was studied in resealed greater than 3-cm long segments of muscle fibres from eight patients."1.28Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita. ( Franke, C; Hatt, H; Iaizzo, PA; Lehmann-Horn, F; Ricker, K; Rüdel, R; Spittelmeister, W, 1991)
"1."1.26Action potentials reconstructed in normal and myotonic muscle fibres. ( Adrian, RH; Marshall, MW, 1976)
"The muscle membrane in myotonia congenita is characterized by a normal resting potential with a greatly increased resting resistance usually attributed to a decrease in membrane chloride permeability (PC1)."1.25Myotonia. An evaluation of the chloride hypothesis. ( Barchi, RL, 1975)
"Muscle from patients with myotonia congenita differed significantly (0."1.25Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita. ( Bryant, SH; Lipicky, RJ; Salmon, JH, 1971)

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-199013 (68.42)18.7374
1990's1 (5.26)18.2507
2000's0 (0.00)29.6817
2010's3 (15.79)24.3611
2020's2 (10.53)2.80

Authors

AuthorsStudies
Altamura, C2
Desaphy, JF2
Conte, D1
De Luca, A1
Imbrici, P2
Hoppe, K1
Chaiklieng, S1
Lehmann-Horn, F5
Jurkat-Rott, K2
Wearing, S1
Klingler, W1
Portaro, S1
Licata, N1
Camerino, GM1
Musumeci, O1
Rodolico, C1
Conte Camerino, D1
Toscano, A1
Weinberger, S1
Wojciechowski, D1
Sternberg, D1
Becher, T1
Begemann, B1
Fahlke, C1
Fischer, M1
Richman, DP1
Yu, Y1
Lee, TT1
Tseng, PY1
Yu, WP1
Maselli, RA1
Tang, CY1
Chen, TY1
Birnberger, KL1
Klepzig, M1
Barchi, RL2
Adrian, RH2
Marshall, MW1
Bryant, SH5
Camerino, D1
Iaizzo, PA1
Franke, C1
Hatt, H1
Spittelmeister, W1
Ricker, K2
Rüdel, R4
Senges, J1
Lipicky, RJ3
Salmon, JH1
McComas, AJ1
Mrozek, K1

Reviews

2 reviews available for chlorine and Batten Turner Congenital Myopathy

ArticleYear
Skeletal muscle ClC-1 chloride channels in health and diseases.
    Pflugers Archiv : European journal of physiology, 2020, Volume: 472, Issue:7

    Topics: Animals; Chloride Channels; Chlorides; Humans; Muscle, Skeletal; Myotonia Congenita

2020
Membrane changes in cells from myotonia patients.
    Physiological reviews, 1985, Volume: 65, Issue:2

    Topics: Action Potentials; Adenosine Triphosphatases; Anthracenes; Chlorides; Electromyography; Environment;

1985

Other Studies

17 other studies available for chlorine and Batten Turner Congenital Myopathy

ArticleYear
Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.
    Pflugers Archiv : European journal of physiology, 2020, Volume: 472, Issue:10

    Topics: Animals; Chloride Channels; Chlorides; KCNQ Potassium Channels; Large-Conductance Calcium-Activated

2020
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
    Neuromolecular medicine, 2015, Volume: 17, Issue:3

    Topics: Adult; Cell Line; Chloride Channels; Chlorides; Consanguinity; Conserved Sequence; Exons; Female; Ge

2015
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
    The Journal of physiology, 2012, Aug-01, Volume: 590, Issue:15

    Topics: Adult; Chloride Channels; Chlorides; Female; HEK293 Cells; Humans; Ion Channel Gating; Male; Middle

2012
Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
    Neuromolecular medicine, 2012, Volume: 14, Issue:4

    Topics: Adult; Animals; Child; Chloride Channels; Chlorides; Disease Progression; Female; Genes, Dominant; H

2012
Influence of extracellular potassium and intracellular pH on myotonia.
    Journal of neurology, 1979, Volume: 222, Issue:1

    Topics: Animals; Chlorides; Electric Stimulation; Extracellular Space; Hydrogen-Ion Concentration; Intracell

1979
Muscle membrane chloride conductance and the myotonic syndromes.
    Electroencephalography and clinical neurophysiology. Supplement, 1978, Issue:34

    Topics: Animals; Anthracenes; Calcium; Carboxylic Acids; Chickens; Chlorides; Goats; Humans; Myotonia; Myoto

1978
Action potentials reconstructed in normal and myotonic muscle fibres.
    The Journal of physiology, 1976, Volume: 258, Issue:1

    Topics: Action Potentials; Animals; Chlorides; Electric Stimulation; Goats; Kinetics; Models, Biological; Mu

1976
Myotonia. An evaluation of the chloride hypothesis.
    Archives of neurology, 1975, Volume: 32, Issue:3

    Topics: Action Potentials; Animals; Anura; Biological Transport; Cell Membrane Permeability; Chlorides; Goat

1975
Chloride conductance of denervated gastrocnemius fibers from normal goats.
    Journal of neurobiology, 1976, Volume: 7, Issue:3

    Topics: Action Potentials; Animals; Chlorides; Goats; In Vitro Techniques; Membrane Potentials; Motor Neuron

1976
Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita.
    Neuromuscular disorders : NMD, 1991, Volume: 1, Issue:1

    Topics: Action Potentials; Adult; Chlorides; Female; Genes, Dominant; Humans; In Vitro Techniques; Male; Mic

1991
Membrane defects in paramyotonia congenita (Eulenburg).
    Muscle & nerve, 1987, Volume: 10, Issue:7

    Topics: Biopsy; Cell Membrane Permeability; Chlorides; Cold Temperature; Humans; In Vitro Techniques; Interc

1987
Mammalian skeletal muscle: reduced chloride conductance in drug-induced myotonia and induction of myotonia by low-chloride solution.
    Naunyn-Schmiedeberg's archives of pharmacology, 1972, Volume: 274, Issue:4

    Topics: Action Potentials; Animals; Chlorides; Cholesterol; Diaphragm; Diazonium Compounds; Electric Stimula

1972
On the repetitive discharge in myotonic muscle fibres.
    The Journal of physiology, 1974, Volume: 240, Issue:2

    Topics: Action Potentials; Animals; Biological Transport, Active; Chlorides; Electrophysiology; Glycerol; Go

1974
Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita.
    The Journal of clinical investigation, 1971, Volume: 50, Issue:10

    Topics: Action Potentials; Adult; Biological Transport; Biopsy; Chlorides; Extracellular Space; Female; Huma

1971
Ion content, potassium efflux and cable properties of myotonic, human, external-intercostal muscle.
    Transactions of the American Neurological Association, 1971, Volume: 96

    Topics: Action Potentials; Cell Membrane Permeability; Chlorides; Extracellular Space; Humans; Membrane Pote

1971
The electrical properties of muscle fiber membranes in dystrophia myotonica and myotonia congenita.
    Journal of neurology, neurosurgery, and psychiatry, 1968, Volume: 31, Issue:5

    Topics: Action Potentials; Adult; Cell Membrane Permeability; Chlorides; Electric Conductivity; Electric Sti

1968
Sodium, potassium, and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia.
    The Journal of general physiology, 1966, Volume: 50, Issue:1

    Topics: Animals; Anura; Biological Transport; Cell Membrane Permeability; Chlorides; Electrophysiology; Fema

1966