Congenital myasthenic syndrome with episodic apnea. [electronic resource]
Producer: 20090827Description: 42-5 p. digitalISSN:- 1873-5150
- Amino Acid Sequence
- Apnea -- complications
- Blepharoptosis -- etiology
- Choline O-Acetyltransferase -- deficiency
- Cholinesterase Inhibitors -- therapeutic use
- Conserved Sequence
- Diagnosis, Differential
- Female
- Humans
- Hypnotics and Sedatives -- therapeutic use
- Infant
- Midazolam -- therapeutic use
- Molecular Sequence Data
- Mutation
- Myasthenic Syndromes, Congenital -- complications
- Pedigree
- Pyridostigmine Bromide -- therapeutic use
- Respiration -- drug effects
- Treatment Outcome
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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