Hereditary Muscle Channelopathies

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/B978-0-12-383834-6.00138-5
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

  2011cited by this paper
• A mutation in a rare type of intron in a sodium‐channel gene results in aberrant splicing and causes myotonia

  2011cited by this paper
• Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

  2010cited by this paper
• Sodium channelopathies of skeletal muscle result from gain or loss of function

  2010cited by this paper
• Isolated eyelid closure myotonia in two families with sodium channel myotonia

  2009cited by this paper
• Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B‐lymphocytes

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• Decremental Response to High-Frequency Trains of Acetylcholine Pulses but Unaltered Fractional Ca2+ Currents in a Panel of “Slow-Channel Syndrome” Nicotinic Receptor Mutants

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• Core Myopathies and Risk of Malignant Hyperthermia

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• Increasing the number of diagnostic mutations in malignant hyperthermia

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• New mutation of the Na channel in the severe form of potassium‐aggravated myotonia

  2009cited by this paper
• K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

  2009cited by this paper
• Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

  2009cited by this paper
• Cold‐induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

  2009cited by this paper
• Genetic variation in RYR1 and malignant hyperthermia phenotypes.

  2009cited by this paper
• Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation

  2008cited by this paper
• Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.

  2008cited by this paper
• Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.

  2008cited by this paper
• Treatment for periodic paralysis (Review)

  2008cited by this paper
• Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia

  2008cited by this paper
• Genotype-Phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

  2007cited by this paper
• The nondystrophic myotonias

  2007cited by this paper
• Orphanet Journal of Rare Diseases BioMed Central Review Multi-minicore Disease

  2007cited by this paper
• NMO-IgG in the diagnosis of neuromyelitis optica

  2007cited by this paper
• Mutations in RYR1 in malignant hyperthermia and central core disease

  2006cited by this paper
• Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

  2006cited by this paper
• Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

  2006cited by this paper
• Muscle Na+ channelopathies

  2006cited by this paper
• Drug treatment for myotonia.

  2006cited by this paper
• Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

  2006cited by this paper
• Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

  2005cited by this paper
• 3,4-Methylenedioxymethamphetamine (Ecstasy) Activates Skeletal Muscle Nicotinic Acetylcholine Receptors

  2005cited by this paper
• Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence*

  2005cited by this paper
• A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

  2005cited by this paper
• Complications of anaesthesia in neuromuscular disorders.

  2005cited by this paper
• Muscle channelopathies and critical points in functional and genetic studies.

  2005cited by this paper
• Polymorphic ventricular tachycardia and KCNJ2 mutations.

  2004cited by this paper
• Focal caspase activation underlies the endplate myopathy in slow‐channel syndrome

  2004cited by this paper
• Periodic paralysis mutation MiRP2-R83H in controls

  2004cited by this paper
• Polymorphic ventricular tachycardia associated with mutations in KCNJ2.

  2004cited by this paper
• New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

  2004cited by this paper
• Congenital Myasthenic Syndromes: Multiple Molecular Targets at the Neuromuscular Junction

  2003cited by this paper
• Myasthenic syndrome caused by mutation of the SCN4A sodium channel

  2003cited by this paper
• Lack of association of the potassium channel–associated peptide MiRP2-R83H variant with periodic paralysis

  2003cited by this paper
• A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

  2003cited by this paper
• Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel

  2003cited by this paper
• Neurological disorders caused by inherited ion-channel mutations.

  2002cited by this paper
• Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome.

  2002cited by this paper
• Diseases of the neuromuscular junction.

  2002cited by this paper
• Acetazolamide-induced muscle weakness in hypokalemic periodic paralysis.

  2002cited by this paper
• Detecting polymorphisms and mutations in candidate genes.

  2002cited by this paper
• Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

  2002cited by this paper
• Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

  2001cited by this paper
• Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

  2001cited by this paper
• MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.

  2001cited by this paper
• Randomized trials of dichlorphenamide in the periodic paralyses

  2000cited by this paper
• Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

  2000cited by this paper
• Genetics and pathogenesis of malignant hyperthermia

  2000cited by this paper
• Thyrotoxic periodic paralysis in caucasians. Report of 8 cases.

  2000cited by this paper
• Effects of temperature on slow and fast inactivation of rat skeletal muscle Na+channels.

  1999cited by this paper
• Voltage-gated ion channels and hereditary disease.

  1999cited by this paper
• Familial cramp due to potassium-aggravated myotonia

  1998cited by this paper
• The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology

  1998cited by this paper
• Myotonia congenita in northern Finland: an epidemiological and genetic study.

  1998cited by this paper
• Transient weakness and compound muscle action potential decrement in myotonia congenita

  1998cited by this paper
• In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low‐risk subjects

  1997cited by this paper
• Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

  1997cited by this paper
• Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKS potassium channel

  1996cited by this paper
• KvLQT1 and IsK (minK) proteins associate to form the IKS cardiac potassium current

  1996cited by this paper
• Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle

  1996cited by this paper
• Subunit composition of minK potassium channels.

  1995cited by this paper
• Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

  1995cited by this paper
• Overexcited or Inactive: Ion Channels in Muscle Disease Review

  1995cited by this paper
• Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects.

  1994cited by this paper
• Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

  1994cited by this paper
• A calcium channel mutation causing hypokalemic periodic paralysis.

  1994cited by this paper
• Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis.

  1994cited by this paper
• Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

  1994cited by this paper
• Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

  1994cited by this paper
• K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.

  1994cited by this paper
• Myotonia fluctuans. A third type of muscle sodium channel disease.

  1994cited by this paper
• Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.

  1993cited by this paper
• A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

  1993cited by this paper
• Acceleration in calcium-induced calcium release in the biopsied muscle fibers from patients with malignant hyperthermia

  1992cited by this paper
• A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.

  1991cited by this paper
• A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

  1991cited by this paper
• Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

  1990cited by this paper
• Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2

  1990cited by this paper
• Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)

  1988cited by this paper
• Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters

  1983cited by this paper
• A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine‐induced ion channel

  1982cited by this paper
• Membrane defects in paramyotonia congenita with and without myotonia in a warm environment

  1981cited by this paper
• On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids

  1977cited by this paper
• Paramyotonia congenita : (Eulenburg)

  1970cited by this paper
• Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats

  1969cited by this paper
• Thyroid function and periodic paralysis.

  1961cited by this paper
• Source (or Part of the following Source): Type Article Title Redefining the Clinical Phenotypes of Non-dystrophic Myotonic Syndromes Author(s)

  year unknowncited by this paper

• Monogene Ionenkanalerkrankungen der Skelettmuskulatur

  2013cites this paper