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myotonia congenita/potasio
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Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita.
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In isolated fiber bundles of external intercostal muscle from each of 13 normal volunteers and each of 6 patients with myotonia congenita, some or all of the following were measured: concentrations of Na(+), K(+), and Cl(-), extracellular volume, water content, K(+) efflux, fiber size, fiber cable
[On the problem of potassium in myotonia congenita (Thomsen)].
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SERUM AND MUSCLE POTASSIUM, SODIUM, MAGNESIUM AND CALCIUM IN MYOTONIA CONGENITA.
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Myotonia levior is a chloride channel disorder.
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The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel,
[Congenital myotonia. Report of 7 patients].
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Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with
Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker).
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The isometric force of arm and leg muscles was studied in five unrelated patients with recessive generalized myotonia (Becker). The symptom of myotonia was present mainly in the legs, whereas transient weakness was the prominent symptom in the arms. Tocainide improved both symptoms, although it
Linkage of atypical myotonia congenita to a sodium channel locus.
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We performed linkage analysis in a pedigree segregating an allele for autosomal dominant, painful myotonia that is potassium sensitive and responsive to acetazolamide. This allele was tightly linked to a skeletal-muscle, sodium channel locus which is now a candidate for the site of the mutational
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
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Hyperkalemic periodic paralysis (hyperKPP) and paramyotonia congenita (PC) are genetic muscle disorders sharing the common features of myotonia and episodic weakness. In hyperKPP, patient symptoms and signs are worsened by elevated serum potassium, whereas in PC, muscle cooling exacerbates the
Acetazolamide-responsive myotonia congenita.
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We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. All patients had painful muscle stiffness that was provoked by fasting and oral potassium administration and was
Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation
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In myotonia, reduced Cl- conductance of the mutated ClC-1 channels causes hindered muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. Repetitive contraction temporarily decreases myotonia, a phenomena called "warm up." The underlying mechanism
Treatment of myotonia congenita with retigabine in mice.
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Patients with myotonia congenita suffer from muscle stiffness caused by muscle hyperexcitability. Although loss-of-function mutations in the ClC-1 muscle chloride channel have been known for 25 years to cause myotonia congenita, this discovery has led to little progress on development of therapy.
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
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Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.
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Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases,
Disorders of membrane channels or channelopathies.
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OBJECTIVE
To review the structure and function of membrane ion channels with special emphasis on inherited nervous system channel disorders or channelopathies.
RESULTS
Channels are pores in the cell membrane. Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell.
Recent applications of X-ray microanalysis in muscle pathology.
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X-ray microanalysis of single muscle fibres visualized in the scanning- and scanning-transmission mode of electron microscopy has been applied to human muscle biopsies to quantify changes of intracellular elements in different muscle disorders. To detect elements representing diffusible ions,
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