[1]
Natera-de Benito D., Töpf A., Vilchez JJ., et al.: Molecular characterization
of congenital myasthenic syndromes in Spain. Neuromuscul Disord.
2017 Dec; 27: 1087-1098.
[2]
Parr J.R., Andrew M.J., Finnis M., et al.: How common is childhood
myasthenia? The UK incidence and prevalence of autoimmune and
congenital myasthenia. Arch Dis Child 2014; 99: 539–542.
[3]
Engel AG.: Congenital Myasthenic Syndromes in 2018. Curr Neurol
Neurosci Rep. 2018 Jun 12; 18: 46.
[4]
Kinali M., Beeson D., Pitt MC., et al.: Congenital myasthenic syndromes
in childhood: diagnostic and management challenges. J Neuroimmunol.
2008 Sep 15; 201-202: 6-12.
[5]
Abicht A., Dusl M. , Gallenmüller C., et al.: Congenital myasthenic
syndromes: achievements and limitations of phenotype-guided gene
after- gene sequencing in diagnostic practice: a study of 680 patients.
Hum Mutat. 2012; 33: 1474-1484.
[6]
Lorenzoni PJ., Kay CSK., Arndt RC., et al.: Congenital myasthenic syndrome
due to DOK7 mutation in a cohort of patients with ‚unexplained’ limb-
girdle muscular weakness. J Clin Neurosci. 2020 May;7 5: 195-198.
[7]
Maggi L., Bernasconi P., D’Amico A., et al.: Italian recommendations
for diagnosis and management of congenital myasthenic syndromes.
Neurol Sci. 2019 Mar; 40: 457-468.
[8]
RodrÃguez Cruz PM., Palace J., Beeson D.: The Neuromuscular Junction
and Wide Heterogeneity of Congenital Myasthenic Syndromes. Int J Mol
Sci. 2018 Jun 5; 19: 1677.
[9]
Klein A., Pitt MC., McHugh JC., et al.: DOK7 congenital myasthenic
syndrome in childhood: early diagnostic clues in 23 children.
Neuromuscul Disord. 2013 Nov;23: 883-891.
[10]
Zisimopoulou P., Evangelakou P., Tzartos J., et al.: A comprehensive
analysis of the epidemiology and clinical characteristics of anti-LRP4 in
myasthenia gravis. J Autoimmun. 2014 Aug; 52: 139-145.
[11]
Pitt MC.: Use of stimulated electromyography in the analysis of the
neuromuscular junction in children. Muscle Nerve. 2017 Nov; 56: 841-
847.
[12]
Peragallo JH.: Pediatric Myasthenia Gravis. Semin Pediatr Neurol. 2017
May; 24: 116-121.
[13]
O’Connor E., Topf A., Zahedi R.P., et al.: Clinical and research strategies for
limb-girdle congenital myasthenic syndromes Ann N Y Acad Sci, 1412
(2018), pp. 102-112.