A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
Journal of Veterinary Internal Medicine, 2022 Case Description A 10‐month‐old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity. Clinical Findings The cat presented for falling over and lying recumbent with its limbs in extension for several ...
Christian Woelfel +4 more
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Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]
, 2011 Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode +22 more
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Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people
Medicine, 2022 Background: This study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype.
Yan-Xin Meng +5 more
openaire +2 more sources
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene
The Turkish Journal of Pediatrics, 2020 Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease).
Nezir Özgün, Hasan Taşlıdere
doaj +1 more source
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 [PDF]
, 2013 Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant ...
Botta, A +8 more
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Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle. [PDF]
, 2016 Electrical membrane properties of skeletal muscle fibers have been thoroughly studied over the last five to six decades. This has shown that muscle fibers from a wide range of species, including fish, amphibians, reptiles, birds, and mammals, are all ...
Chen, Tsung-Yu +4 more
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Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I [PDF]
, 2017 Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene.
Beat Erne +19 more
core +4 more sources
Chinese Medical Journal, 2016 Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations.
Hong-Xia Wang +4 more
doaj +1 more source
Properties of the Domain-II Voltage Sensor Determining the Function of Nav1.8 (SCN10A) Channels [PDF]
, 2010 Stable isotope record from snow pit ...
Arnaud, Laurent +12 more
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A 3-mRNA-based prognostic signature of survival in oral squamous cell carcinoma [PDF]
PeerJ, 2019 Background Oral squamous cell carcinoma (OSCC) is the most common type of head and neck squamous cell carcinoma with an unsatisfactory prognosis. The aim of this study was to identify potential prognostic mRNA biomarkers of OSCC based on analysis of The ...
Ruoyan Cao +4 more
doaj +2 more sources