Title: | Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation |
Journal : | Neuromuscular disorders : NMD, 14, 1 |
Authors: | Yasaki E, Author ; Prioleau C ; Barbier J ; Richard P ; Andreux F ; Leroy JP ; Dartevelle P ; Koenig J ; Molgo J ; Fardeau M ; Eymard B ; Hantaï D |
Material Type: | Article |
Publication Date: | 2004 |
Size: | p 24 |
Languages: | English |
Keywords : | autosomal recessive inheritance ; congenital myasthenic syndrome ; electrodiagnosis ; genetic mutations ; morphology ; muscle biopsies ; neuromuscular junctions ; nicotinic receptors ; rapsyn ; skeletal muscle |
Pubmed / DOI : | Pubmed : 14659409 |