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6 resultaten
Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.
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BACKGROUND
Muscle magnetic resonance imaging (MRI) is the most sensitive method in the detection of dystrophic and non-dystrophic abnormalities within striated muscles. We hypothesized that in severe myotonia congenita type Becker muscle stiffness, prolonged transient weakness and muscle hypertrophy
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
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In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare. We describe two unrelated patients with a novel variant, p.Ile1455Thr, with phenotypes of paramyotonia in one case and fixed proximal myopathy with latent myotonia in another. In-vitro whole cell patch-clamp
The effect of topically applied n-butylester of 2,4-dichlorophenoxyacetic acid on the immune response in mice.
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Six-week-old female CD-1 mice were administered the n-butylester of 2,4-dichlorophenoxyacetic acid (2,4-D). The 2,4-D ester was applied dermally at dosages ranging from 0 to 500 mg/kg (2,4-D content) in the acute studies and 0 to 300 mg/kg in the 3 week subacute studies. Following acute exposure,
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.
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BACKGROUND
Muscle channelopathies such as paramyotonia, hyperkalemic periodic paralysis, and potassium-aggravated myotonia are caused by gain-of-function Na+ channel mutations.
METHODS
Methods: Implementation of a three-dimensional radial 23Na magnetic resonance (MR) sequence with ultra-short echo
"Status myotonicus" in Nav1.4-M1592V channelopathy.
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Nav1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). We report a case of potassium-aggravated myotonia due to Nav1.4-M1592V channelopathy with severe and
[Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita]
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Objective: To investigate the clinical, myopathological and genetic mutation characteristics in two Chinese families with paramyotonia congenita (PMC). Methods: Clinical manifestations, electrophysiology, muscle pathology and gene sequencing of two Chinese families with PMC were
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