Results 51 to 60 of about 3,302 (205)
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
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]
, 1996 Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Brown, RH, Cannon, SC, Hayward, LJ
core
Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]
, 2007 The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat +10 more
core +5 more sources
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
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
doaj +1 more source
Muscle hypertrophy in myotonia congenita [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2003 A 28 year old male presented to our neurology service with stiffness of a few years’ duration in all muscles. The stiffness was maximum at the onset of exercise and his muscles loosened up after some time. He had no difficulty in releasing his grip after holding an object. He had very well developed muscles in spite …
B, Varkey, L, Varkey
openaire +2 more sources
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
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
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