| Title : Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases - Vincent_1981_Muscle.Nerve_4_306 |
| Author(s) : Vincent A , Cull-Candy SG , Newsom-Davis J , Trautmann A , Molenaar PC , Polak RL |
| Ref : Muscle & Nerve , 4 :306 , 1981 |
| Abstract : The nature of the defect in congenital myasthenia was investigated in biopsy specimens of intercostal muscle from 5 male patients whose symptoms presented between birth and 2 years of age. Miniature end-plate potentials were reduced in amplitude in all 5 patients. The number of acetylcholine receptors as determined by alpha-bungarotoxin binding was normal in case 1 and reduced in cases, 2, 4, and 5. The shape of the end-plates as shown by autoradiography and cholinesterase staining was normal in case 1 and elongated in cases 2, 4, and 5. In cases 3, alpha-bungarotoxin binding was slowly reversible, and there were some muscle fibers with multiple end-plate regions. The acetylcholine content of the muscle was normal in all 5 cases. None of the patients had serum antibody to human acetylcholine receptor as measured by immunoprecipitation or inhibition of alpha-bungarotoxin binding. We conclude that congenital myasthenia is a heterogeneous condition of nonimmune etiology in which both presynaptic and postsynaptic defects can be found. |
| ESTHER : Vincent_1981_Muscle.Nerve_4_306 |
| PubMedSearch : Vincent_1981_Muscle.Nerve_4_306 |
| PubMedID: 7254233 |
Vincent A, Cull-Candy SG, Newsom-Davis J, Trautmann A, Molenaar PC, Polak RL (1981)
Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases
Muscle & Nerve
4 :306
Vincent A, Cull-Candy SG, Newsom-Davis J, Trautmann A, Molenaar PC, Polak RL (1981)
Muscle & Nerve
4 :306