(Q48818477)

15 February 2018

title

Characterization of two new dominant ClC-1 channel mutations associated with myotonia. (English)

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15 February 2018

author

Thomas Jespersen

2

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15 February 2018

Søren-Peter Olesen

object named as

Søren-Peter Olesen

7

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author name string

Morten Grunnet

1

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15 February 2018

Eskild Colding-Jørgensen

3

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Marianne Schwartz

4

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Dan A Klaerke

5

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15 February 2018

John Vissing

6

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Morten Dunø

8

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15 February 2018

publication date

1 December 2003

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15 February 2018

published in

Muscle and Nerve

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volume

28

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15 February 2018

issue

6

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15 February 2018

page(s)

722-732

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15 February 2018

Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S

cites work

1 reference

Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids

21 January 2018

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Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

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Different fast-gate regulation by external Cl(-) and H(+) of the muscle-type ClC chloride channels

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The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

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X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

21 January 2018

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Pore stoichiometry of a voltage-gated chloride channel

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Apamin interacts with all subtypes of cloned small-conductance Ca2+-activated K+ channels

21 January 2018

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Single chloride channels from Torpedo electroplax. Activation by protons

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Functional messenger RNAs are produced by SP6in vitrotranscription of cloned cDNAs

21 January 2018

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ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

21 January 2018

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Drug-induced myotonia in human intercostal muscle

21 January 2018

1 reference

Two physically distinct pores in the dimeric ClC-0 chloride channel.

21 January 2018

1 reference

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

21 January 2018

1 reference

Dimeric structure of single chloride channels from Torpedo electroplax

21 January 2018

1 reference

Projection structure of a ClC-type chloride channel at 6.5 A resolution

21 January 2018

1 reference

Characteristics of the chloride conductance in muscle fibers of the rat diaphragm

21 January 2018

1 reference

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

21 January 2018

1 reference

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

21 January 2018

1 reference

A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

21 January 2018

1 reference

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia

21 January 2018

1 reference

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

21 January 2018

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Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

21 January 2018

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21 January 2018

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Pores Formed by Single Subunits in Mixed Dimers of Different CLC Chloride Channels

21 January 2018

1 reference

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

21 January 2018

1 reference

The pathophysiology of myotonia produced by aromatic carboxylic acids

21 January 2018

1 reference

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

21 January 2018

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Open-state substructure of single chloride channels from Torpedo electroplax

21 January 2018

1 reference

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.10501

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15 February 2018

PubMed ID

14639587

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15 February 2018