Results 1 to 10 of about 16,650 (226)

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants [PDF]

BMC Neurology, 2020
Background Variants in the SLC25A1 gene are associated with a severe neurometabolic disease, D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). A report in 2014 presented the first account of congenital myasthenic syndrome (CMS) with mild intellectual ...
Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li, Shuizhen Zhou   +7 more
doaj   +2 more sources

062 Pembrolizumab induced lambert-eaton myasthenic syndrome [PDF]

BMJ Neurology Open, 2021
Rob Zielinski, Rami Haddad, Jasmine Ashhurst   +2 more
doaj   +2 more sources

Lambert-Eaton Myasthenic Syndrome

BMJ Case Reports
Lambert-Eaton myasthenic syndrome is a disorder of neuromuscular transmission in which an autoantibody is directed against the pre-synaptic calcium channel. It presents with proximal limb weakness, greater in the legs, with or without peripheral and autonomic neuropathy. Bulbar involvement is rare and fatigueability is not a feature.
Jayarangaiah A, Lui F, Theetha Kariyanna P.   +2 more
europepmc   +5 more sources

Congenital Myasthenic Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications. [PDF]

Diagnostics (Basel)
Petchesi CD, Jurca AA, Jurca AD, Dorobantu FR, Iuhas AR, Severin E, Jurca CM.   +6 more
europepmc   +3 more sources

Takotsubo syndrome and myasthenic crisis after radiocontrast media-induced anaphylaxis: a case report [PDF]

Journal of Neurocritical Care, 2022
Background Takotsubo syndrome and myasthenic crisis can be triggered by physical stress. We present the case of a woman who developed Takotsubo syndrome and myasthenic crisis following radiocontrast media-induced anaphylaxis.
Jeong Hee Cho, Hyeongsoo Kim, Jungyon Yum   +2 more
doaj   +1 more source

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome. [PDF]

Sci Rep
Kikuchi S, Wada N, Mariya T, Ishikawa A, Kihara M, Furukawa S, Kato H, Nishio Y, Ogi T, Ohsaki Y, Tachi N.   +10 more
europepmc   +3 more sources

Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene [PDF]

BMC Neurology
Background Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to be reported in
Sheng Tian, Huan Sun, Fen-Fang Gao, Kang Zhang, Jing Nan, Mu Niu, Xiao Jia, Gang Xu, Wei Ge   +8 more
doaj   +2 more sources

Atypical Presentation of Seronegative Paraneoplastic Lambert-Eaton Myasthenic Syndrome with Cerebellar Ataxia. [PDF]

Ann Indian Acad Neurol
Rohatgi S, Nimal S, Nirhale S, Rao P, Naphade P, Dubey P, Gitay A, Khandait P, Hatekar K, Gundewar S.   +9 more
europepmc   +2 more sources

Congenital Myasthenic Syndrome

罕见病研究, 2022
Congenital Myasthenic syndrome (CMS) is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in ...
WANG Wenqing, ZHAO Yuying, YAN Chuanzhu
doaj   +1 more source

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Annals of Clinical and Translational Neurology, 2021
Objective We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes.
Yawen Zhao, Ying Li, Yang Bian, Sheng Yao, Penju Liu, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan   +8 more
doaj   +1 more source