• <em>KCNG1</em>-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf
• <em>SCN4A</em>-related congenital myopathy in a Han Chinese patient: A case report and literature review
• A Boy with Herculean Appearance
• A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia
• A complex <em>CLCN1</em> variant associated with hereditary myotonia in a mixed-breed dog
• A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog
• A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita
• A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
• A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
• A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
• A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene
• Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in <em>SCN4A</em> gene: a case report
• Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report
• An unusual mutation in myotonia congenita
• Autosomal Recessive Myotonia Congenita in an Adolescent Boy With Novel Mutation: A Case Report With Discussion on Management
• BK channels promote action potential repolarization in skeletal muscle but contribute little to myotonia
• Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children
• Brody Myopathy Presenting as Recurrent Rhabdomyolysis
• Buprenorphine may be effective for treatment of paramyotonia congenita
• CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
• Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
• Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare <em>CLCN1</em> variant c.1667T&gt;A (p.I556N) in a Malaysian family
• Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
• Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis
• Challenges in Obstetric Anesthesia in a Parturient With Native American Myopathy: A Case Report
• Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
• Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia
• ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations
• Clinical and genetic characteristics of myotonia congenita in Chinese population
• Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations
• Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
• Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review
• Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients
• Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia
• Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries
• Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center
• Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia
• Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study
• Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
• Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy
• Congenital myopathy and epidermolysis bullosa due to PLEC variant
• Congenital Myopathy as a Phenotypic Expression of <em>CACNA1S</em> Gene Mutation: Case Report and Systematic Review of the Literature
• Congenital myopathy associated with a novel mutation in <em>MEGF10</em> gene, myofibrillar alteration and progressive course
• Congenital myotonia. Incidence and presentation of a series of cases
• Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita
• Diagnostic yield of muscle biopsy in infants: Retrospective analysis of clinical and histopathologic findings
• Diagnostics in skeletal muscle channelopathies
• Effects of AFQ056 on language learning in fragile X syndrome
• Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
• Emigration of Scientists From Czechoslovakia During the Soviet Domination
• Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles
• Feasibility, safety, and efficacy of 12-week side-to-side vibration therapy in children and adolescents with congenital myopathy in New Zealand
• First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features
• Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
• Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from <em>CLCN1</em> and <em>SCN4A</em> Mutations Identified Alone and Coexisting in Myotonic Patients
• Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
• Grip myotonia
• Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
• Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
• Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors
• Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
• In silico versus functional characterization of genetic variants: lessons from muscle channelopathies
• Inherited myotonias
• Lupus-induced autoimmune chloride channelopathy-like myotonia congenita, successfully treated with immunosuppression
• Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy
• Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors
• Muscle channelopathies
• Myotonia Congenita
• Myotonia Congenita
• Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier
• Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
• Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
• Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
• New Challenges Resulting From the Loss of Function of Na_v1.4 in Neuromuscular Diseases
• Non-dystrophic myotonia: 2-year clinical and patient reported outcomes
• Novel <em>TUBA4A</em> variant causes congenital myopathy with focal myofibrillar disorganisation
• On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmuller
• Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease
• p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
• Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
• Pediatric neuromuscular channelopathies
• Phenotypic Variability of <em>MEGF10</em> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
• Plateau potentials contribute to myotonia in mouse models of myotonia congenita
• Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory
• Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
• Rhabdomyolysis - the chamaeleon of the intensive care unit
• Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people
• Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature
• STAC3 related congenital myopathy: A case series of seven Comorian patients
• Teaching Video NeuroImage: Carbamazepine Improves Gait Initiation in Autosomal Recessive Myotonia Congenita
• The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
• The First Russian Patient with Native American Myopathy
• The mechanism underlying transient weakness in myotonia congenita
• Thomsen's Disease and Psychiatric Misdiagnosis: a Case Report
• Transfer of Mexiletine into Breast Milk: A Case Report
• Translating genetic and functional data into clinical practice: a series of 223 families with myotonia
• Treatment of SCN4A-induced myotonic crisis
• Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics
• Two cases of potassium-aggravated myotonia induced by SCN4A gene variation
• Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?