Results 51 to 60 of about 3,329 (204)
Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy [PDF]
, 2017 To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function
Aliverti, Andrea +8 more
core +2 more sources
Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?
Prenatal Diagnosis, Volume 46, Issue 1, Page 30-38, January 2026.ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries +7 more
wiley +1 more source
Frontiers in Physiology, 2020 Reduced Cl− conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita.
Kerstin Hoppe +14 more
doaj +1 more source
Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
, 2000 Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core +1 more source
Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Ashish Tamang +6 more
wiley +1 more source
Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core +1 more source
Annals of Clinical and Translational Neurology, Volume 12, Issue 8, Page 1528-1547, August 2025.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]
, 2014 Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A. +7 more
core +4 more sources
Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti +4 more
wiley +1 more source
Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG +6 more
doaj