Results 71 to 80 of about 6,556 (183)
A Myocyte‐Enriched Long Non‐Coding RNA NRMLncR Enhances Myogenesis in Mouse
The FASEB Journal, Volume 40, Issue 13, 15 July 2026.We identified a novel myocyte‐enriched, Notch‐repressed myogenic lncRNA, NRMLncR, that is induced by myogenic regulatory factors (MRFs) during myogenic progression in mouse. NRMLncR localizes to cytoplasmic and nuclear compartments, associates with the RNA‐binding protein CUGBP Elav‐like family member 1 (CELF1), and is linked to neighboring gene Tbx1 ...
Yufen Li +12 more
wiley +1 more source
Frontiers in Neurology, 2020 Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini +8 more
doaj +1 more source
Cushing’s Myopathy in Dogs: Prevalence, Clinical Abnormalities, and Response to Treatment
AnimalsA distinct myotonia is a muscle disorder that may occur secondary to excess corticosteroids (hyperadrenocorticism, HAC, or Cushing’s disease) and is associated with electrodiagnostic abnormalities on electromyography (EMG).
Kate Hovious +3 more
doaj +1 more source
Frontiers in Veterinary ScienceAt 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Gabriel Utida Eguchi +6 more
doaj +1 more source
Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
Epilepsia OpenObjectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in ...
Mariagrazia Talarico +12 more
doaj +1 more source
Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field
Frontiers in Neurology, 2020 Lorenzo Maggi +3 more
doaj +1 more source
Muscle channelopathies and electrophysiological approach
Annals of Indian Academy of Neurology, 2008 Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith +2 more
doaj
Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants
JCRPESchwartz-Jampel syndrome (SJS) type 1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS type 1 develops due to variations in the HSPG2 gene which
Fatma Güliz Atmaca +3 more
doaj +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