Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

Ioos, C

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. [electronic resource] - Neuropediatrics Aug 2004 - 246-9 p. digital

Publication Type: Case Reports; Journal Article

0174-304X

10.1055/s-2004-820993 doi


Adult
Arthrogryposis--complications
Brain Stem--pathology
Child
Child, Preschool
Cholinesterase Inhibitors--therapeutic use
Female
Humans
Male
Muscle Proteins--deficiency
Mutation
Myasthenic Syndromes, Congenital--complications