Congenital Myasthenic Syndromes in 2012
β Scribed by Andrew G. Engel
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 178 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1528-4042
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π SIMILAR VOLUMES
Congenital myasthenic syndromes (CMSs) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more mechanisms. Specific diagnosis of a CMS is important as some medications that benefit one type of CMS can be detrimental in another type. In some
We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. Repetitive nerve stimulation showed a significant compound muscle action potential (CMAP