Results 81 to 90 of about 2,290 (109)
Open-Label Trial of Ranolazine for the Treatment of Myotonia Congenita
, 2017 Objective: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). Methods: Thirteen participants were assessed at baseline and 2, 4, and 5 weeks.
John T. Kissel +15 more
core +1 more source
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Iranian Journal of Medical Sciences, 2016 Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi +2 more
doaj
Problems of diagnostic management of congenital myotonia: to execute or to pardon [PDF]
, 2016 Congenital myotonia is a monogenetic disease, hereditary neuromuscular chanalopathy that affects skeletal muscles. Two types of myotonia congenita exist; autosomal dominant myotonia congenita also called Thomsen disease (OMIM160800), and recessive ...
Шнайдер, Н. А. +3 more
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Ocular Neuromyotonia: Inducible Superior Oblique Myotonia
, 2013 Superior oblique myotonia is a rare disorder known to occur following skull-base radiation therapy, most commonly related to pituitary/parasellar malignancy.
Ryan J. Whitted; Paul Moots; Patrick Lavin
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Mechanisms of Phenotypic Variability in Myotonia Congenita [PDF]
, 2013 The severity of Myotonia Congenita varies not only across individuals with different CLCN1 genotypes, but also within a pedigree, and can even fluctuate over time within a single individual in response to environmental circumstances.
Burge, JA
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, 1986 Example of patient with ocular myotonia. Patient is led through instructions for direction of gaze and opening and closing of eyes. Right eye is shown to be stuck in position after held gaze to the left and right, with very slow relaxation back into ...
Kathleen B. Digre, MD
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ENERGETIC METABOLISM AND FATIGABILITY IN EXPERIMENTAL MYOTONIA
, 1990 Experimental myotonia was induced in rats by 2,4-dichloro-phenoxyacetic acid (2,4-D). After 4 to 24 h of treatment, the anterior tibialis muscles exhibited increased fatigue at low frequency (30 Hz) nerve stimulation, but they developed normal tension at
RAMIREZ, BU
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Thesis (Ph.D.)--University of Rochester. School of Medicine & Dentistry. Dept. of Pharmacology and Physiology, 2024.Myotonia, muscle hyperexcitability resulting from the loss of ClC-1 channel function, is one of the characteristic symptoms of myotonic ...
Sipple, Matthew T., Lueck, John D.
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Morvan syndrome with pain in both feet as the initial symptom: one case report
Chinese Journal of Contemporary Neurology and NeurosurgeryCHEN Yuan +4 more
doaj +1 more source
Aerobic training in myotonia congenita: Effect on myotonia and fitness
Muscle and Nerve, 2017 Introduction: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training can reduce myotonia and improve fitness. Methods: Untrained patients with MC (age: 24–62 years; n = 6) completed 28 ± 3 sessions
John Vissing +2 more
exaly +2 more sources