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
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Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes
Нервно-мышечные болезни, 2015 Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population.
V. P. Fedotov +4 more
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Exploiting Tofu Liquid Waste Become Healthy Food by Lactic Acid Bacteria and Determination of Its Cholesterol Levels in Vitro [PDF]
, 2009 One of the way to overcome problem contamination of Tofu Liquid Waste (TLW) is by exploiting again the waste so that can yield high economic valuable product.
Kusdiyantini, Endang +2 more
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Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita [PDF]
, 2015 Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1
ALTAMURA, CONCETTA +9 more
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Functional Classification of Skeletal Muscle Networks. I. Normal Physiology [PDF]
, 2012 Extensive measurements of the parts list of human skeletal muscle through transcriptomics and other phenotypic assays offer the opportunity to reconstruct detailed functional models.
Subramaniam, Shankar +2 more
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Improving genetic diagnostics of skeletal muscle channelopathies [PDF]
, 2020 Introduction: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk.
Hanna, MG +3 more
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Revista de Biología Tropical, 2008 Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales +8 more
doaj
The Application of Clinical Genetics, 2021 Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA +3 more
doaj
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation [PDF]
, 2019 The sarcolemmal voltage gated sodium channel NaV1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential.
Durran, S +11 more
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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
The Yale journal of biology and medicine, 2013 Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia.We report the clinical presentations of two individuals with Myotonia Congenita (MC ...
Amanda Amrita, Lakraj +5 more
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