Myotonia Congenita Latest Advances

Find the Latest Research About Myotonia Congenita

Last Updated: 09/19/2026

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Found 1176 publications

General Anesthetic Management for Laparoscopic Appendectomy in a Patient With Myotonia Congenita: A Case Report.

General Anesthetic Management for Laparoscopic Appendectomy in a Patient With Myotonia Congenita: A Case Report.

Journal: AANA journal

Published: July 23, 2026

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Journal: Neurogenetics

Published: April 27, 2026

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype.

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype.

Journal: Frontiers in endocrinology

Published: April 08, 2026

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

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

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: December 15, 2025

HACD1-related congenital myopathy skeletal muscle MRI findings in a Brazilian cohort.

HACD1-related congenital myopathy skeletal muscle MRI findings in a Brazilian cohort.

Journal: Neuromuscular disorders : NMD

Published: December 15, 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

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Last Updated: 09/19/2026