Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]
PLoS ONE, 2014 Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng +4 more
doaj +1 more source
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.
Yifan Li +8 more
doaj +1 more source
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Verdu-Diaz J +58 more
europepmc +2 more sources
A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy
The EuroBiotech Journal, 2023 The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U. +2 more
doaj +1 more source
Novel CLCN1 mutations with unique clinical and electrophysiological consequences [PDF]
Brain, 2002 Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in ...
WU FF +17 more
openaire +4 more sources
RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function. [PDF]
Ann Clin Transl NeurolAbstract Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown.
Hartman JM +15 more
europepmc +2 more sources
Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
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
doaj +1 more source
Frontiers in Neurology, 2020 Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
Alayne P. Meyer +6 more
doaj +1 more source
RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]
Case Rep Neurol MedMotor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Posa A, Kornhuber M.
europepmc +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 +1 more source