Disease: Non-dystrophic Myotonic Disorders
- A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia
- A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?
- A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
- A SCN4A mutation causing paramyotonia congenita
- An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
- Asymptomatic myotonia congenita unmasked by severe hypothyroidism
- Beyond the muscular involvement in non-dystrophic myotonias: The emerging role of neuromodulation
- Blockers of Skeletal Muscle Na(v)1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back
- Blockers of Skeletal Muscle Na<sub>v</sub>1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back
- Cardiomyopathy and rapidly developing proximal myotonic amyotrophy in an athlete (author's transl)
- Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia
- Clinical forms of non-dystrophic congenital myotonia
- 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
- Diagnostics in skeletal muscle channelopathies
- Double trouble in a patient with myotonia
- Drug repurposing in skeletal muscle ion channelopathies
- Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
- Electron spin resonance investigations of membrane proteins in erythrocytes in muscle diseases. Duchenne and myotonic muscular dystrophy and congenital myotonia
- Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy
- Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy
- Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature
- Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies
- Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients
- Functional and Structural Characterization of ClC-1 and Na<sub>v</sub>1.4 Channels Resulting from <em>CLCN1</em> and <em>SCN4A</em> Mutations Identified Alone and Coexisting in Myotonic Patients
- Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes
- Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
- Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
- Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders
- Identification of novel mutations of the CLCN1 gene for myotonia congenital in China
- Idiopathic generalized epilepsy in a family with SCN4A-related myotonia
- Imaging alterations in skeletal muscle channelopathies: a study in 15 patients
- Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey
- Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
- In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia
- Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis
- Molecular genetics and clinical aspects of inherited disorders of nerve and muscle
- Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors
- Multiple sclerosis and non-dystrophic myotonias: do they share a common pathophysiology?
- Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias
- Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes
- Mutation spectrum and health status in skeletal muscle channelopathies in Japan
- Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene
- Myotonia congenita: novel mutations in CLCN1 gene
- Myotonia levior is a chloride channel disorder
- Myotonic discharges discriminate chloride from sodium muscle channelopathies
- Myotonic dystrophies: clinical presentation, pathogenesis, diagnostics and therapy
- Myotonic syndromes
- Neuromuscular hereditary channelopathies: non-dystrophic myotonias, paramyotonias and periodic paralysis
- Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant
- Non-dystrophic myotonia: 2-year clinical and patient reported outcomes
- Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients
- Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene
- Nondystrophic myotonia: challenges and future directions
- Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis
- Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families
- Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review
- Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report
- Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs
- Predominant fiber atrophy and fiber type disproportion in early ullrich disease
- Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
- Redefining the clinical phenotypes of non-dystrophic myotonic syndromes
- Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene
- Skeletal muscle channelopathies: a guide to diagnosis and management
- Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
- Substitutions of the S4DIV R2 residue (R1451) in Na<sub>V</sub>1.4 lead to complex forms of paramyotonia congenita and periodic paralyses
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine
- The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study
- The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
- The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment
- Therapy in myotonic disorders and in muscle channelopathies
- Thomsen disease with ptosis and abnormal MR findings
- Treatment in myotonia and periodic paralysis
- Variation of CTG-repeat number of the DMPK gene in muscle tissue
- What the internist should know about hereditary muscle channelopathies
- Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita