Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1 [PDF]
AnimalsMyotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction.
Leah K. Manning +10 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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Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1 [PDF]
Journal of Veterinary Internal Medicine, 2023 Three‐related cats were evaluated for a history of short‐strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage‐gated channel 1 (CLCN1) molecular study were performed.
Sílvia Corrêa +9 more
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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita [PDF]
Frontiers in GeneticsMyotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari +10 more
doaj +2 more sources
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis [PDF]
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
doaj +3 more sources
Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]
PLoS ONEEquine myotonic dystrophy (eMD) is a rare neuromuscular disorder of undetermined origin marked by muscle hypertrophy and stiffness, dystrophic muscle histopathology, and myotonic discharges.
Stephanie J Valberg +7 more
doaj +2 more sources
Clinical and genetic characteristics of myotonia congenita in Chinese population [PDF]
ChannelsMyotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC).
Yuting He +11 more
doaj +2 more sources
Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs [PDF]
Animals(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and ...
G. Diane Shelton +7 more
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Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia [PDF]
Frontiers in Veterinary ScienceAt 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Gabriel Utida Eguchi +6 more
doaj +2 more sources
ClC-1 chloride channels: state-of-the-art research and future challenges [PDF]
Frontiers in Cellular Neuroscience, 2015 The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of ...
Paola eImbrici +5 more
doaj +4 more sources