Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. Int J Mol Sci. 2023;24:3730.
Article CAS PubMed PubMed Central Google Scholar
Ramdas S, Beeson D, Dong YY. Congenital myasthenic syndromes: increasingly complex. Curr Opin Neurol. 2024;37:493–501.
Article CAS PubMed PubMed Central Google Scholar
Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, et al. Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry. 2010;81:973–7.
Article CAS PubMed Google Scholar
Natera-de Benito D, Topf A, Vilchez JJ, Gonzalez-Quereda L, Dominguez-Carral J, Diaz-Manera J, et al. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul Disord. 2017;27:1087–98.
Article CAS PubMed Google Scholar
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, et al. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. J Neurol. 2023;270:909–16.
Article CAS PubMed Google Scholar
Smeets N, Gheldof A, Dequeker B, Poleur M, Maldonado Slootjes S, Van Parijs V, et al. Congenital myasthenic syndromes in Belgium: genetic and clinical characterization of pediatric and adult patients. Pediatr Neurol. 2024;158:57–65.
Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S. How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch Dis Child. 2014;99:539–42.
Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, et al. Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia. Eur J Paediatr Neurol. 2020;26:34–8.
Qashqari H, McNiven V, Gonorazky H, Mendoza-Londono R, Hassan A, Kulkarni T, et al. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications. Neuromuscul Disord. 2022;32:842–4.
Pugliese A, Della Marina A, de Paula Estephan E, Zanoteli E, Roos A, Schara-Schmidt U, et al. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. J Neurol. 2024;271:1331–41.
Article CAS PubMed Google Scholar
Shen XM, Selcen D, Brengman J, Engel AG. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. 2014;83:2247–55.
Article CAS PubMed PubMed Central Google Scholar
Reynolds HM, Wen T, Farrell A, Mao R, Moore B, Boyden SE, et al. Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome. Cold Spring Harb Mol Case Stud. 2022;8:a006242.
Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, et al. Synaptotagmin 2 mutations cause an autosomal-dominant form of Lambert-Eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014;95:332–9.
Article CAS PubMed PubMed Central Google Scholar
Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, et al. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology. 2015;85:1964–71.
Article PubMed PubMed Central Google Scholar
Montes-Chinea NI, Guan Z, Coutts M, Vidal C, Courel S, Rebelo AP, et al. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurol Genet. 2018;4:e282.
Article CAS PubMed PubMed Central Google Scholar
Donkervoort S, Mohassel P, Laugwitz L, Zaki MS, Kamsteeg EJ, Maroofian R, et al. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A. 2020;182:2272–83.
Article CAS PubMed PubMed Central Google Scholar
Maselli RA, van der Linden H Jr, Ferns M. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. Am J Med Genet A. 2020;182:1744–9.
Article CAS PubMed Google Scholar
Maselli RA, Wei DT, Hodgson TS, Sampson JB, Vazquez J, Smith HL, et al. Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Muscle Nerve. 2021;64:219–24.
Article CAS PubMed Google Scholar
Schara U, Lochmuller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics. 2008;5:542–7.
Article CAS PubMed PubMed Central Google Scholar
Thompson R, Bonne G, Missier P, Lochmuller H. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Emerg Top Life Sci. 2019;3:19–37.
Article CAS PubMed PubMed Central Google Scholar
Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, et al. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord. 2012;22:318–24.
Article CAS PubMed Google Scholar
Yis U, Becker K, Kurul SH, Uyanik G, Bayram E, Haliloglu G, et al. Genetic landscape of congenital myasthenic syndromes from Turkey: novel mutations and clinical insights. J Child Neurol. 2017;32:759–65.
Article PubMed PubMed Central Google Scholar
Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, et al. Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up. Neuromuscul Disord. 2018;28:315–22.
Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, et al. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet. 2009;46:203–8.
Article CAS PubMed Google Scholar
Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, et al. LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet. 2014;23:1856–68.
Article CAS PubMed Google Scholar
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, et al. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Brain. 2024;147:3849–62.
Polavarapu K, Sunitha B, Topf A, Preethish-Kumar V, Thompson R, Vengalil S, et al. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024;147:281–96.
Khan MM, Lustrino D, Silveira WA, Wild F, Straka T, Issop Y, et al. Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease. Proc Natl Acad Sci USA. 2016;113:746–50.
Article CAS PubMed PubMed Central Google Scholar
Arkhipov A, Zhilyakov N, Sibgatullina G, Nevsky E, Bukharaeva EA, Petrov AM. Adrenergic modulation of acetylcholine release at the mouse neuromuscular junctions of fast-twitch skeletal muscle. Neurochem Res. 2025;50:162.
Article CAS PubMed Google Scholar
Fukudome T, Ohno K, Brengman JM, Engel AG. Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport. 1998;9:1907–11.
Article CAS PubMed Google Scholar
Harper CM, Engel AG. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol. 1998;43:480–4.
Article CAS PubMed Google Scholar
Harper CM, Fukodome T, Engel AG. Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology. 2003;60:1710–3.
Comments (0)