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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Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]
, 2015 Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
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Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: A useful tool in myotonic dystrophy type 1 [PDF]
, 2015 Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3\u2019UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future
Cardani, Rosanna +9 more
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Frontiers in Neurology, 2022 Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani +5 more
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Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins [PDF]
, 2014 RNA binding proteins of the conserved CUGBP1, Elav-like factor (CELF) family contribute to heart and skeletal muscle development and are implicated in myotonic dystrophy (DM).
Burge, Christopher B +10 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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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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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
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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
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Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene [PDF]
, 2017 Objective: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. Methods: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study,
Hanna, Michael G. +5 more
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