Cells, 2021 Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation
Oscar Brenes +10 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 +3 more sources
Chinese Medical Journal, 2016 Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations.
Hong-Xia Wang +4 more
doaj +2 more sources
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family [PDF]
Frontiers in Genetics, 2023 Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa +16 more
doaj +2 more sources
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
Journal of Veterinary Internal Medicine, 2022 Case Description A 10‐month‐old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity. Clinical Findings The cat presented for falling over and lying recumbent with its limbs in extension for several ...
Christian Woelfel +4 more
doaj +2 more sources
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
doaj +2 more sources
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene [PDF]
The Turkish Journal of Pediatrics, 2020 Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease).
Nezir Özgün, Hasan Taşlıdere
doaj +2 more sources
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. [PDF]
PLoS ONE, 2013 Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1).
Daniela Skálová +9 more
doaj +2 more sources
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Iranian Journal of Medical Sciences, 2016 Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi +2 more
doaj +1 more source
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