ArticleNeurology2018
Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.
Article in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Exploring the Value of Quantitative Muscle Ultrasound in Neuromuscular Junction Disorders: A Pilot Study.Muscle & nerve · 2026Article
- TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility.European journal of neurology · 2026Article
- Article
- Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.BMC neurology · 2026Article
- Review
- Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report.The American journal of case reports · 2026Article
- Postsynaptic Congenital Myasthenic Syndrome Mimicking Limb-Girdle Muscular Dystrophy Associated with an Alternatively Spliced Exon in CHRNB1: A Case Report and Literature Review.Children (Basel, Switzerland) · 2026Article
- Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl.BMC pediatrics · 2026Article
- Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.Muscle & nerve · 2026Article
- Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice.Diagnostics (Basel, Switzerland) · 2025Article
- Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.Brain : a journal of neurology · 2024Article
- Homozygosity of a Founder Variant c.1508dupC inNeurology. Genetics · 2024Article
- Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.Journal of neuromuscular diseases · 2024Article
- Agenesis of Pectoralis Major Muscle in Late-OnsetNeurology. Genetics · 2023Article
- Diagnosis and Management of Seronegative Myasthenia Gravis: Lights and Shadows.Brain sciences · 2023Review
- The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.Biomolecules & biomedicine · 2023Review
- Article
- A Pediatric Case ofChildren (Basel, Switzerland) · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
objectiveTo investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice.
methodsWe searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed.
resultsWe identified 34 patients with CMS, 30 of whom had a molecular diagnosis (14
conclusionMisdiagnosis occurred in 94% of the adult patients with CMS and causes a median diagnostic delay of nearly 3 decades from symptom onset. Seronegative myasthenia gravis and muscle diseases were the 2 most common misdiagnoses, which led to treatment delay and unnecessary exposure to immunotherapy, thymectomy, or muscle biopsy.
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