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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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 periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation. [PDF]
PLoS ONE, 2020 Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4.
Chenyu Zhao +10 more
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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 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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A novel mutation in CLCN1 associated with feline myotonia congenita. [PDF]
PLoS ONE, 2014 Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000.
Barbara Gandolfi +8 more
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Reduced K+ Build-Up in T-Tubules Contributes to Resistance of the Diaphragm to Myotonia [PDF]
The Journal of Physiology, Volume 602, Issue 22, Page 6171-6188, 15 November 2024.Patients with myotonia congenita suffer from slowed muscle relaxation caused by hyperexcitability. The diaphragm is only mildly affected in myotonia congenita; discovery of the mechanism underlying its resistance to myotonia could identify novel ...
Denman, Kirsten +4 more
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Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita [PDF]
Scientific ReportsMyotonia and paramyotonia congenita (PC) are rare neuromuscular disorders characterized by muscle stiffness that intensifies in cold environments. These disorders are associated with variants in the SCN4A gene, that encodes the alpha subunit of the ...
Quentin Plumereau +3 more
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Treatment of myotonia congenita with retigabine in mice [PDF]
Experimental Neurology, 2019 Mark M Rich
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