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Mohammadi, Pouria, Salar Zaheryani, Seyed Mohammad. (1396). Genetic Basis of Congenital Myasthenic Syndrome: A Review Study. سامانه مدیریت نشریات علمی, 3(4), 179-188. doi: 10.32598/jamsat.3.4.179
Pouria Mohammadi; Seyed Mohammad Salar Zaheryani. "Genetic Basis of Congenital Myasthenic Syndrome: A Review Study". سامانه مدیریت نشریات علمی, 3, 4, 1396, 179-188. doi: 10.32598/jamsat.3.4.179
Mohammadi, Pouria, Salar Zaheryani, Seyed Mohammad. (1396). 'Genetic Basis of Congenital Myasthenic Syndrome: A Review Study', سامانه مدیریت نشریات علمی, 3(4), pp. 179-188. doi: 10.32598/jamsat.3.4.179
Mohammadi, Pouria, Salar Zaheryani, Seyed Mohammad. Genetic Basis of Congenital Myasthenic Syndrome: A Review Study. سامانه مدیریت نشریات علمی, 1396; 3(4): 179-188. doi: 10.32598/jamsat.3.4.179

Genetic Basis of Congenital Myasthenic Syndrome: A Review Study

Journal of Advanced Medical Sciences and Applied Technologies
مقاله 1، دوره 3، شماره 4، اسفند 2017، صفحه 179-188    اصل مقاله (422.85 K)
نوع مقاله: Review Article
شناسه دیجیتال (DOI): 10.32598/jamsat.3.4.179
نویسندگان
Pouria Mohammadi1؛ Seyed Mohammad Salar Zaheryani* 2
1Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
2Poostchi Eye Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
چکیده
The neuromuscular junction is a highly specialized cholinergic synapse, essential for initiating nerve-evoked muscle contractions by means of neuromuscular transmission. Loss or dysfunction of any component of this junction might affect synaptic performance. Congenital Myasthenic Syndromes (CMSs) are rare heterogeneous disorders of autosomal inheritance caused by genetic defects affecting neuromuscular transmission that results in skeletal muscle weakness and abnormal fatigability on exertion.  The onset is usually from birth to childhood. CMSs are more uncommon than autoimmune myasthenia gravis. CMSs are classified based on their genetic and clinical presentations into presynaptic, synaptic basal lamina, and postsynaptic CMSs. To date, mutations in more than 25 genes have been implicated in the pathogenesis of CMSs. In this review article, different CMSs diagnostic procedures are investigated, and the genetic, clinical, and molecular aspects of CMSs are outlined.
کلیدواژه‌ها
Congenital myasthenic syndromes؛ Synaptic transmission؛ Mutation؛ Neuromuscular junction؛ Ophthalmoplegia
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