This case report describes a young man referred for electrodiagnostic evaluation for hand stiffness and intermittent numbness. His needle electromyography revealed diffusely increased insertional and spontaneous motor activity in the form of myotonic discharges. Given the finding of symptomatic myotonia also in his mother, Thomsen myotonia was suspected. Investigations not only confirmed Thomsen myotonia, but also led to the identification of a previously reported heterozygous Becker mutation in both the proband and his mother.
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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFClinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.
Mol Biol Rep
June 2024
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Background: Myotonia Congenita (MC) is a rare disease classified into two major forms; Thomsen and Becker disease caused by mutations in the CLCN1 gene, which affects muscle excitability and encodes voltage-gated chloride channels (CLC-1). While, there are no data regarding the clinical and molecular characterization of myotonia in Egyptian patients.
Methods: Herein, we report seven Egyptian MC patients from six unrelated families.
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Muscle Nerve
August 2024
Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Introduction/aims: Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage-gated chloride channel 1 (CLCN1) gene, important for the normal repolarization of the muscle action potential.
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Channels (Austin)
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Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
Myotonia 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). The clinical data and auxiliary examinations of MC patients in our clinic were retrospectively collected.
View Article and Find Full Text PDF[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].
Rinsho Shinkeigaku
May 2024
Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine.
A Japanese woman experienced slowness of movement in her early teens and difficulty in opening her hands during pregnancy. On admission to our hospital at 42 years of age, she showed grip myotonia with warm-up phenomenon. However, she had neither muscle weakness, muscle atrophy, cold-induced symptomatic worsening nor episodes of transient weakness of the extremities.
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