SLOW CHANNEL CONGENITAL MYASTHENIC SYNDROMES
\slˈə͡ʊ t͡ʃˈanə͡l kənd͡ʒˈɛnɪtə͡l mˌa͡ɪɐsθˈɛnɪk sˈɪndɹə͡ʊmz], \slˈəʊ tʃˈanəl kəndʒˈɛnɪtəl mˌaɪɐsθˈɛnɪk sˈɪndɹəʊmz], \s_l_ˈəʊ tʃ_ˈa_n_əl k_ə_n_dʒ_ˈɛ_n_ɪ_t_əl 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)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
Nearby Words
- slovenness
- slovenry
- slow
- slow alpha 2 globulin
- slow alpha 2 macroglobulins
- Slow Channel Congenital Myasthenic Syndromes
- slow conception
- slow down
- slow fever
- slow k
- slow lane