Congenital Myasthenic Syndrome Latest Advances

Find the Latest Research About Congenital Myasthenic Syndrome

Last Updated: 09/26/2026

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Found 1037 publications

Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome.

Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome.

Journal: Cureus
Published: July 16, 2026

Congenital Myasthenic Syndrome in Doberman Pinscher Dogs Is Associated with a Homozygous Missense Variant in AGRN.

Congenital Myasthenic Syndrome in Doberman Pinscher Dogs Is Associated with a Homozygous Missense Variant in AGRN.

Journal: Biomolecules
Published: June 28, 2026

Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report.

Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report.

Journal: The American journal of case reports
Published: June 22, 2026

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.

Journal: CNS neuroscience & therapeutics
Published: June 21, 2026

Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.

Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.

Journal: Human gene therapy
Published: June 19, 2026

Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.

Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.

Journal: Journal of neuromuscular diseases
Published: June 05, 2026

Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J.

Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J.

Journal: Stem cell research
Published: June 05, 2026

Genetic Rescue of a Lethal Wasting Mutation ( Syb1 lew/lew ) by Neuron-Specific Expression of ECFP-Syb2.

Genetic Rescue of a Lethal Wasting Mutation ( Syb1 lew/lew ) by Neuron-Specific Expression of ECFP-Syb2.

Journal: bioRxiv : the preprint server for biology
Published: June 05, 2026

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances
Published: June 02, 2026

Longitudinal Behavioral Profiling Reveals Early-Onset and Persistent Motor Dysfunction in a VAChT-KD Model for Congenital Myasthenic Syndrome.

Longitudinal Behavioral Profiling Reveals Early-Onset and Persistent Motor Dysfunction in a VAChT-KD Model for Congenital Myasthenic Syndrome.

Journal: Behavioural brain research
Published: May 20, 2026

Familial dystroglycanopathy: same mutation, different phenotypes.

Familial dystroglycanopathy: same mutation, different phenotypes.

Journal: Practical neurology
Published: May 19, 2026

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

Journal: BMC neurology
Published: May 14, 2026
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Last Updated: 09/26/2026