A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment. [PDF]
J Vet Intern Med, 2022 AbstractCase DescriptionA 10‐month‐old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity.Clinical FindingsThe cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited.
Woelfel C +4 more
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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. [PDF]
BMC Med Genet, 2020 Abstract Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen disease) and recessive form (Becker disease) and both are caused by pathogenic variants in the CLCN1 gene.
Sparber P +6 more
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A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings. [PDF]
Ann Indian Acad Neurol, 2021 Chakravarty K, Lal V, Ray S.
europepmc +5 more sources
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia. [PDF]
Iran J Med Sci, 2016 Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability.
Miryounesi M +2 more
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Myotonia congenita: novel mutations in CLCN1 gene. [PDF]
Channels (Austin), 2015 Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms.
Liu XL +9 more
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A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. [PDF]
Sci Rep, 2019 AbstractMutations 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 clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical,
Araújo CET +8 more
europepmc +5 more sources
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. [PDF]
Mol Genet Genomic Med, 2021 Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Jehasse K +7 more
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A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient. [PDF]
BMC Neurol, 2018 Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to ...
Miao J +5 more
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Publisher Correction: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. [PDF]
Sci Rep, 2020 An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Araújo CET +8 more
europepmc +3 more sources
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene [PDF]
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). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. Genotypic
Özgün, Nezir, Taşlıdere, Hasan
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