Results 91 to 100 of about 12,609 (254)
Neurotherapeutics, 2007 The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently described proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM-2), and proximal myotonic dystrophy (a variant of DM-2)
Chad R, Heatwole, Richard T, Moxley
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British Journal of Anaesthesia, 1994 The myotonias are a group of uncommon disorders. All display a characteristic electromyographic picture and some of the disorders have systemic manifestations. They are important to the anaesthetist for several reasons. Anaesthetic and surgical interventions may induce myotonia which, when initiated, may complicate the course of anaesthesia and be ...
S H, Russell, N P, Hirsch
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Myotonia congenita and myoadenylate deaminase deficiency: case report [PDF]
, 2003 Rosana Hermínia Scola +4 more
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A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
, 2021 Kamalesh Chakravarty +2 more
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Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations [PDF]
, 2015 Katharina Ronstedt +11 more
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Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field
Frontiers in Neurology, 2020 Lorenzo Maggi +3 more
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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
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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
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