MYASTHENIC SYNDROMES, CONGENITAL, SLOW CHANNEL
\mˌa͡ɪɐsθˈɛnɪk sˈɪndɹə͡ʊmz], \mˌaɪɐsθˈɛnɪk sˈɪndɹəʊmz], \m_ˌaɪ__ɐ_s_θ_ˈɛ_n_ɪ_k s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56 (2):163-7)
By DataStellar Co., Ltd
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Nearby Words
- myasthenic
- myasthenic myopathic syndrome of eaton lambert
- myasthenic myopathic syndrome of lambert eaton
- myasthenic reaction
- myasthenic syndrome
- Myasthenic Syndromes, Congenital, Slow Channel
- myatonia
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- myatonia, myatony congenita
- myb gene
- myb genes