Amyotonia Congenita Latest Advances

Find the Latest Research About Amyotonia Congenita

Last Updated: 04/28/2026

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Found 1164 publications

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

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

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

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

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy.

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy.

Journal: BMC neurology

Published: July 22, 2025

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 04, 2025

Myotonia congenita - a diagnosis that can be made regardless of the patient's age.

Myotonia congenita - a diagnosis that can be made regardless of the patient's age.

Journal: Neurologia i neurochirurgia polska

Published: June 26, 2025

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

Journal: European journal of human genetics : EJHG

Published: June 19, 2025

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Journal: Journal of neuromuscular diseases

Published: June 10, 2025

Uncovering the CLCN1 Y150* nonsense variant in myotonia congenita: genetic evidence from segregation analysis.

Uncovering the CLCN1 Y150* nonsense variant in myotonia congenita: genetic evidence from segregation analysis.

Journal: Acta neurologica Belgica

Published: June 04, 2025

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Last Updated: 04/28/2026