A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment [PDF]
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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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report [PDF]
BMC Medical Genetics, 2020 Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber +6 more
doaj +5 more sources
A novel mutation in the CLCN1 gene causing autosomal recessive myotonia congenita in siblings [PDF]
Annals of Indian Academy of Neurology, 2021 Kamalesh Chakravarty +2 more
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A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia [PDF]
Iranian Journal of Medical Sciences, 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.
Mohammad Miryounesi +2 more
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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]
Molecular Genetics & Genomic Medicine, 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.
Kevin Jehasse +7 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
europepmc +4 more sources
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
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 Neurology, 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 ...
Jing Miao +5 more
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Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations [PDF]
Italian Journal of PediatricsBackground Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics
Xin Wang +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