Myotonia Congenita

Myotonia congenita is a disorder that causes sustained tensing of skeletal muscles, preventing them from relaxing. This feed focuses on mechanisms that underlie this condition and therapeutic strategies used for its treatment.

January 16, 2022

Baseline fat fraction is a strong predictor of disease progression in Becker muscular dystrophy.

NMR in Biomedicine
Thom T J VeegerHermien E Kan
January 14, 2022

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.

European Journal of Medical Genetics
Igor E OrlovEvgeny N Suspitsin
January 12, 2022
Case Report
Open Access

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).

International Journal of Molecular Sciences
Ana GonçalvesRosário Santos
December 28, 2021

Electrocardiographic prediction of late gadolinium enhancement on cardiac magnetic resonance in Becker muscular dystrophy.

Neuromuscular Disorders : NMD
Jeffrey S BennettKan N Hor
December 23, 2021
Case Report

First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

The Application of Clinical Genetics
Jorge Andres Olave-RodriguezLisa Ximena Rodriguez-Rojas
December 22, 2021

Equalization of Training Protocols by Time Under Tension Determines the Magnitude of Changes in Strength and Muscular Hypertrophy.

Journal of Strength and Conditioning Research
Hugo C Martins-CostaMauro H Chagas
December 3, 2021

Lack of variation in nuclear DNA content in avian muscle.

Genome Génome / Conseil National De Recherches Canada
Ana Gabriela Jimenez, Emily Gray Lencyk
December 1, 2021

Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.

Neuropathology and Applied Neurobiology
Tatyana A VetterKevin M Flanigan
November 29, 2021

Long-term Safety and Efficacy of Mexiletine in Myotonic Dystrophy Types 1 and 2.

Neurology. Clinical Practice
Christina MouseleChristopher Turner
November 28, 2021
Open Access

KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf.

Genes
Joana G P JacintoCord Drögemüller
November 28, 2021
Review
Open Access

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.

Biomolecules
Anwar BabanDiego Martinelli
November 25, 2021
Review
Open Access

Venous popliteal entrapment syndrome.

Cardiovascular Diagnosis and Therapy
Christine K Chen, Marcin Kolber
November 20, 2021
Open Access

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.

Frontiers in Neurology
Kun HuangHuan Yang
November 19, 2021
Open Access

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.

Frontiers in Pediatrics
Chaoping HuXihua Li

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