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Last Updated: 10/31/2025

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Found 1152 publications

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

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families.

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families.

Journal: Cureus
Published: May 18, 2025

STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia.

STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia.

Journal: Arquivos de neuro-psiquiatria
Published: April 22, 2025

Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita.

Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita.

Journal: Scientific reports
Published: April 14, 2025

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Journal: Neuromuscular disorders : NMD
Published: March 11, 2025

Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.

Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.

Journal: Journal of neuromuscular diseases
Published: February 19, 2025

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Journal: The Journal of general physiology
Published: February 12, 2025

Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.

Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.

Journal: Neuromuscular disorders : NMD
Published: January 28, 2025

FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis.

FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis.

Journal: EMBO molecular medicine
Published: December 21, 2024

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.

Journal: Italian journal of pediatrics
Published: December 16, 2024

The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review.

The widening genetic and myopathologic spectrum of congenital myopathies (CMYOs): a narrative review.

Journal: Neuromuscular disorders : NMD
Published: December 09, 2024

Carbamazepine treatment of myotonia congenita in a cat.

Carbamazepine treatment of myotonia congenita in a cat.

Journal: JFMS open reports
Published: December 02, 2024
Showing 1-12 of 1,152

Last Updated: 10/31/2025