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P42 Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes

✍ Scribed by Cheung, J.; Cossins, J.; Liu, W.; Belaya, K.; Beeson, D.


Book ID
122108166
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
55 KB
Volume
24
Category
Article
ISSN
0960-8966

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Congenital myasthenic syndrome comprises a heterogeneous group of inherited disorders of neuromuscular transmission. Acetylcholine receptor (AChR) deficiency is the most common form of congenital myasthenic syndrome and in most cases results from mutations within the coding region of the AChR subuni