Results 51 to 60 of about 12,609 (254)
Journal of Veterinary Internal Medicine, 2023 Background Severe muscle stiffness (SMS) in dogs with hypercortisolism (HC) is uncommon. Objectives To evaluate signalment, presentation, treatments, and long‐term outcomes of dogs with concurrent HC and SMS. Animals Thirty‐seven dogs.
Stefania Golinelli +14 more
doaj +1 more source
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
Scientific Reports, 2019 Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the
C. E. Araújo +8 more
semanticscholar +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley +1 more source
Anesthetic management of a patient with sodium-channel myotonia: a case report
JA Clinical Reports, 2019 Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto +4 more
doaj +1 more source
Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Hypokalemic periodic paralysis (HypoKPP) is an ion channelopathy causing episodic skeletal muscle weakness triggered by hypokalemia. Reduced inward rectifier K+ (Kir) channel activity contributes to membrane depolarization and paralysis, suggesting that pharmacologic activation of muscle K+ channels may restore excitability ...
Kirsten Denman, Mark M. Rich
wiley +1 more source
Frontiers in Neurology, 2020 The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia +6 more
doaj +1 more source
Muscle &Nerve, EarlyView.Pretreatment with an agonist of Kv7 potassium channels (XEN1101) protects the soleus muscle from a loss of force during a 2 mM K+ challenge, in a mouse model of hypokalemic periodic paralysis. ABSTRACT Introduction/Aims Effective management remains lacking for recurrent episodes of acute weakness in hypokalemic periodic paralysis (HypoPP).
Viktor Chanchykov +4 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2019 Schwartz Jampel syndrome was first described in 1962. It is an autosomal recessive disease with generalized myotonic myopathy and skeletal dysplasia. A mutation in the HSPG2 gene occurs. Approximately 150 cases have been reported in literature. A 4-year-
Gürkan Gürbüz, Hatice Mutlu Albayrak
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Frontiers in Neurology, 2020 Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
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