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.

Joana G P JacintoCord Drögemüller
November 28, 2021
Open Access

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.

Anwar BabanDiego Martinelli
November 25, 2021
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

Sign up to follow this feed and discover related papers.

Related Feeds

3D Cellular Models of Brain and Neurodegeneration

Brain organoids are three-dimensional in vitro cellular models of the brain that can recapitulate many processes such as the neurodevelopment. In addition, these organoids can be combined with other cell types, such as neurons and astrocytes to study their interactions in assembloids. Disease processes can also be modeled by induced pluripotent stem cell-derived organoids and assembloids from patients with neurodegenerative disorders. Discover the latest research on the models here.


TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Pathogenic Mechanisms

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS: Phenotypes

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized phenotypically by progressive muscle weakness. Clinical phenotypes of ALS can be classified based on the pattern, level, and area of onset (e.g. bulbar, cervical, lumbar). Here is the latest research investigating phenotypes of ALS.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here is the latest research on ALS and prions.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research in this field.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS) is associated with the death of neurons that control voluntary muscles. This feed followes the latest research into therapies for this progressive neurodegenerative disease.

Age-related Dementia

Dementias are a group of conditions, including Alzheimer's disease, vascular dementia, and frontotemporal dementia, characterized by deficiencies in cognitive abilities. Age-related dementia refers to dementias that occur in older individuals, usually 60+ years old, in contrast to early-onset dementia. Follow the latest research on age-related dementia here.

Alexander Disease

Alexander disease is a rare leukodystrophy caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). Here is the latest research on this disease.

© 2022 Meta ULC. All rights reserved