Case report: Coexistence of myotonia congenita and Brugada syndrome in one family [PDF]
Frontiers in Neurology, 2022 Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac ...
Ann Cordenier +7 more
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The mechanism underlying transient weakness in myotonia congenita [PDF]
eLife, 2021 In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from
Jessica H Myers +9 more
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Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients [PDF]
Frontiers in Pediatrics, 2021 Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Chaoping Hu +4 more
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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
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Carbamazepine treatment of myotonia congenita in a cat [PDF]
Journal of Feline Medicine and Surgery Open ReportsCase summary A 2-year-old female intact domestic shorthair cat was referred to the neurology service at the Foster Hospital for Small Animals as a result of lifelong weakness, seizure-like episodes after excitement, muscle spasms, stiffness of the limbs ...
Genesis V Lopez Bonilla +3 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
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Myotonia congenita and myoadenylate deaminase deficiency: case report [PDF]
Arquivos de Neuro-Psiquiatria, 2003 Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance.
Scola Rosana Herminia +4 more
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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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Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita [PDF]
Frontiers in Neurology, 2020 The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential for
Chung-Jiuan Jeng +10 more
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