Open AccessCongenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity
Author(s) -
Iván O. Espinoza,
Carolina Reynoso,
Giulliana Chavez,
Andrew G. Engel
Publication year - 2019
Publication title -
medwave
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.178
H-Index - 7
ISSN - 0717-6384
DOI - 10.5867/medwave.2019.05.7645
Subject(s) - palpebral fissure , medicine , ptosis , congenital myasthenic syndrome , neuromuscular transmission , weakness , pediatrics , hypotonia , compound heterozygosity , compound muscle action potential , facial muscles , proximal muscle weakness , physical therapy , surgery , mutation , anatomy , acetylcholine receptor , genetics , receptor , electrophysiology , biopsy , muscle biopsy , biology , gene