Myotonia Congenita Latest Advances

Find the Latest Research About Myotonia Congenita

Last Updated: 06/30/2026

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Found 1169 publications

Muscle Stiffness due to Neuromuscular Hyperexcitability.

Muscle Stiffness due to Neuromuscular Hyperexcitability.

Journal: Muscle & nerve

Published: April 06, 2026

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Journal: Journal of neuromuscular diseases

Published: February 25, 2026

Myotonia: Recognition, Evaluation, and Differential Diagnosis.

Myotonia: Recognition, Evaluation, and Differential Diagnosis.

Journal: Muscle & nerve

Published: February 03, 2026

Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living.

Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living.

Journal: Journal of neuromuscular diseases

Published: February 02, 2026

A Novel Anesthetic in Thomsen Myotonia Congenita With Rocuronium and Sugammadex: A Case Report.

A Novel Anesthetic in Thomsen Myotonia Congenita With Rocuronium and Sugammadex: A Case Report.

Journal: A&A practice

Published: January 12, 2026

Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia.

Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: January 07, 2026

Piper rhythm-like electromyographical activity in muscle stiffness in sodium channel myotonia representing potassium-aggravated myotonia and myotonia permanens.

Piper rhythm-like electromyographical activity in muscle stiffness in sodium channel myotonia representing potassium-aggravated myotonia and myotonia permanens.

Journal: Journal of neurophysiology

Published: December 24, 2025

Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study.

Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study.

Journal: Neuromuscular disorders : NMD

Published: December 03, 2025

The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies

The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies

Journal: Medecine sciences : M/S

Published: November 28, 2025

A clinical prediction rule for myotonia permanens associated with the SCN4A p.Gly1306Glu variant.

A clinical prediction rule for myotonia permanens associated with the SCN4A p.Gly1306Glu variant.

Journal: Current research in neurobiology

Published: November 06, 2025

Rare Brody myopathy: A case report.

Rare Brody myopathy: A case report.

Journal: Journal of the American Association of Nurse Practitioners

Published: October 23, 2025

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Journal: Cureus

Published: October 07, 2025

Showing 1-12 of 1,169

Last Updated: 06/30/2026