Congenital Myasthenic Syndrome Latest Advances

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

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.

Journal: Journal of neuromuscular diseases

Published: June 05, 2026

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

Positive allosteric modulator selective for adult muscle nicotinic acetylcholine receptor.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 02, 2026

Familial dystroglycanopathy: same mutation, different phenotypes.

Journal: Practical neurology

Published: May 19, 2026

Correction to: Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 19, 2026

Pearls & Oy-sters: Use of Short-Acting B-Agonist in DOK7-Related Congenital Myasthenic Syndrome Treatment.

Journal: Neurology

Published: March 16, 2026

Epigenetics of Genes Displaying High and Preferential Expression in Myoblasts.

Journal: Epigenomes

Published: January 30, 2026

Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: January 22, 2026

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report.

Journal: Cureus

Published: December 15, 2025

Hidden diagnoses among patients with double seronegative myasthenia gravis.

Journal: Frontiers in neurology

Published: November 25, 2025

Congenital Myasthenic Syndrome Latest Advances

Find the Latest Research About Congenital Myasthenic Syndrome

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.

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

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

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.

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.

Positive allosteric modulator selective for adult muscle nicotinic acetylcholine receptor.

Positive allosteric modulator selective for adult muscle nicotinic acetylcholine receptor.

Familial dystroglycanopathy: same mutation, different phenotypes.

Familial dystroglycanopathy: same mutation, different phenotypes.

Correction to: Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).

Correction to: Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).

Pearls & Oy-sters: Use of Short-Acting B-Agonist in DOK7-Related Congenital Myasthenic Syndrome Treatment.

Pearls & Oy-sters: Use of Short-Acting B-Agonist in DOK7-Related Congenital Myasthenic Syndrome Treatment.

Epigenetics of Genes Displaying High and Preferential Expression in Myoblasts.

Epigenetics of Genes Displaying High and Preferential Expression in Myoblasts.

Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).

Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report.

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report.

Hidden diagnoses among patients with double seronegative myasthenia gravis.

Hidden diagnoses among patients with double seronegative myasthenia gravis.