No abstract available
Keywords:
CHRNA1; Congenital myasthenic syndrome; Neuromuscular junction defect; Postsynaptic defect.
MeSH terms
-
Child
-
Electric Stimulation
-
Genetic Testing
-
Humans
-
Male
-
Mutation / genetics*
-
Myasthenic Syndromes, Congenital / genetics*
-
Myasthenic Syndromes, Congenital / physiopathology
-
Neural Conduction / genetics
-
Receptors, Nicotinic / genetics*
-
Ulnar Nerve / physiopathology
Substances
-
CHRNA1 protein, human
-
Receptors, Nicotinic