Results 21 to 30 of about 10,373 (189)
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
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
doaj +2 more sources
Autosomal recessive myotonia congenita in sheep
Genetics Selection Evolution, 1997 Sponenberg DP +3 more
exaly +3 more sources
Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia [PDF]
Journal of Movement Disorders, 2018 Aryun Kim +6 more
doaj +2 more sources
Becker congenital myotonia in black African with molecular findings
Egyptian Journal of Medical Human Genetics, 2022 Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin +6 more
doaj +1 more source
The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
Frontiers in Neurology, 2022 IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang +6 more
doaj +1 more source
Contributors to Pathologic Depolarization in Myotonia Congenita [PDF]
, 2023 Myotonia congenita is an inherited skeletal muscle disorder caused by loss-of-function mutation in the CLCN1 gene. This gene encodes the ClC-1 chloride channel, which is almost exclusively expressed in skeletal muscle where it acts to stabilize the ...
Myers, Jessica Hope
core +2 more sources
Myotonia Congenita: Case Report of Becker's Variant
Boğaziçi Tıp Dergisi, 2022 Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
doaj +1 more source
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis [PDF]
Chinese Medical Journal, 2018 Yang-Qi Xu +5 more
doaj +2 more sources
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 +1 more source