A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
Reference22 articles.
1. Congenital myasthenic syndrome: a brief review;Lorenzoni;Pediatr Neurol,2012
2. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment;Engel;Lancet Neurol,2015
3. Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review;Luan;Clin Neurol Neurosurg,2016
4. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 Domain of the Epsilon Subunit;Ohno;Proc Natl Acad Sci USA,1995
5. The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome);Kaplan;Neuromuscul Disord,2015
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1. Novel compound missense variants in MUSK impair LRP4-MUSK-DOK7 complex associated with congenital myasthenic syndrome 9 and insights into genotype-phenotype correlation;2023-07-14
2. Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature;Journal of Personalized Medicine;2023-05-06
3. Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation;Pharmacogenomics and Personalized Medicine;2023-04
4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13
5. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study;Journal of Neurology;2022-10-29
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