Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-05021-0.pdf
Reference25 articles.
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3. Eymard B, Hantai D, Estournet B (2013) Congenital myasthenic syndromes. Handb Clin Neurol 113:1469–1480. https://doi.org/10.1016/B978-0-444-59565-2.00016-2
4. Engel AG, Shen XM, Selcen D, Sine SM (2015) Congenital myasthenic syndromes: athogenesis, diagnosis, and treatment. Lancet Neurol 14(4):420–434. https://doi.org/10.1016/S1474-4422(14)70201-7
5. Parr J, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S (2014) How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch Dis Child 99(6):539–542. https://doi.org/10.1136/archdischild-2013-304788
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