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 ...
Gudrun Pappaert
exaly +4 more sources
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review [PDF]
Channels, 2022 Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle.
Zhenfu Wang, Xusheng Huang
exaly +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita [PDF]
Frontiers in Neurology, 2020 Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini +8 more
doaj +2 more sources
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 +2 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]
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
doaj +2 more sources
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
doaj +2 more sources