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Last Updated: 01/07/2026
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Found 1157 publications
The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies
Journal: Medecine sciences : M/S
Published: November 28, 2025
Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy.
Journal: BMC neurology
Published: July 22, 2025
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.
Journal: Acta neurologica Belgica
Published: June 04, 2025
OXPHOS complex deficiency in congenital myopathy: A systematic review.
Journal: European journal of clinical investigation
Published: June 03, 2025
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.
Journal: Arquivos de neuro-psiquiatria
Published: April 22, 2025
Long term safety and efficacy of lamotrigine in patients with non-dystrophic myotonia, a single-centre prospective study.
Journal: Neuromuscular disorders : NMD
Published: April 10, 2025
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.
Journal: Journal of neuromuscular diseases
Published: February 19, 2025
Last Updated: 01/07/2026