Free Access
Issue |
Med Sci (Paris)
Volume 39, Novembre 2023
Les Cahiers de Myologie
|
|
---|---|---|
Page(s) | 58 - 63 | |
Section | Cas clinique | |
DOI | https://doi.org/10.1051/medsci/2023135 | |
Published online | 17 November 2023 |
- Ohno K, Ohkawara B, Shen XM et al. Clinical and apthologic features of congenital myasthenic syndromes caused by 35 genes. A comprehensive review. Int J Mol Sci 2023; 24 : 3730. [CrossRef] [PubMed] [Google Scholar]
- Richard P, Gaudon K, Haddad H, et al. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology 2008 ; 71 : 1967–1972. [CrossRef] [PubMed] [Google Scholar]
- Rodríguez Cruz PM. Palace J, Beeson D. Inherited disorders of the neuromuscular junction: an update. J Neurol 2014 ; 261 : 2234–2243. [CrossRef] [PubMed] [Google Scholar]
- Gomez CM, Maselli R, Staub J, et al. Novel delta and beta subunit acetylcholine receptor mutations in the slow-channel syndrome demonstrate phenotypic variability. Soc Neurosci Abstr 1998 ; 24 : 284. [Google Scholar]
- Finlayson S, Spillane J, Kullmann DM, et al. Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. Muscle Nerve 2013 ; 47 : 279–282. [CrossRef] [PubMed] [Google Scholar]
- Chaouch A, Müller JS, Guergueltcheva V, et al. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 2012 ; 259 : 474–481. [CrossRef] [PubMed] [Google Scholar]
- Gomez CM, Maselli RA, Vohra BP, et al. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol 2002 ; 51 : 102–112. [CrossRef] [PubMed] [Google Scholar]
- Croxen R, Hatton C, Shelley C, et al. Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology 2002 ; 72 : 294. [Google Scholar]
- Ohno K, Wang HL, Milone M, et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 1996 ; 17 : 157–170. [CrossRef] [PubMed] [Google Scholar]
- Wang HL, Milone M, Ohno K, et al.. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci, 1999 2: 226–33. Erratum in Nat Neurosci 1999 ; 2 : 485. [CrossRef] [PubMed] [Google Scholar]
- Shen XM, Brengman JM, Edvardson S, et al. Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology 2012 ; 79 : 449–454. [CrossRef] [PubMed] [Google Scholar]
- Palace J, Lashley D, Bailey S, et al. Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscul Disord 2012 ; 22 : 112–117. [CrossRef] [PubMed] [Google Scholar]
- Heckmann JM, Morrison KE, Emeryk-Szajewska B, et al. Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects. J Autoimmun 1996 ; 9 : 175–180. [CrossRef] [PubMed] [Google Scholar]
- Giraud M, Eymard B, Tranchant C, et al. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis. Genes Immun 2004 ; 5 : 80–83. [CrossRef] [PubMed] [Google Scholar]
- Santos E, Moreira I, Coutinho E, et al. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. Neuromuscul Disord 2015 ; 25 : 928–931. [CrossRef] [PubMed] [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.