Matches in SemOpenAlex for { <https://semopenalex.org/work/W4246732014> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W4246732014 endingPage "e65" @default.
- W4246732014 startingPage "e65" @default.
- W4246732014 abstract "We describe the clinical and electrophysiological findings of a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutations in the gene encoding agrin (AGRN). A 43 year-old-man, born after a normal pregnancy at term, presented with generalized hypotonia in the first months of life. He walked at 12 months but soon developed ptosis, neck and truncal muscle weakness progressed slowly. There was arreflexia with flexor plantar responses. He never had sensory symptoms. Parents were normal; an older brother with a similar condition died at15. Electrophysiological investigations were performed on many occasions; blood count and chemistries of serum and CSF were normal. Antibodies against AChR, MuSK, and P/Q voltage-gated were negative. NCS were normal. RNS (3 Hz) of the median nerve induced a 40% decrement in the Thenar CMAP that improved markedly after exercise and Neostigmine. SFEMG showed increased jitter and blocking. Ultrastructure of muscle showed small nerve terminals, simplified postsynaptic folds, and disruption of their architecture. Genetic analysis revealed a nonsense and a missense mutations in the gene encoding agrin (AGRN). These findings demonstrate that the AGRN mutations can cause a disruption of the architecture of the neuromuscular junction that results in a severe CMS." @default.
- W4246732014 created "2022-05-12" @default.
- W4246732014 creator A5022974613 @default.
- W4246732014 creator A5023664036 @default.
- W4246732014 creator A5029959676 @default.
- W4246732014 creator A5033318529 @default.
- W4246732014 creator A5061736502 @default.
- W4246732014 creator A5089633069 @default.
- W4246732014 date "2016-03-01" @default.
- W4246732014 modified "2023-09-27" @default.
- W4246732014 title "ID 429 – Clinical and electrophysiological follow-up study of a patient with congenital myasthenic syndrome (CMS) associated with mutations in the gen of the agrin (AGRN)" @default.
- W4246732014 doi "https://doi.org/10.1016/j.clinph.2015.11.217" @default.
- W4246732014 hasPublicationYear "2016" @default.
- W4246732014 type Work @default.
- W4246732014 citedByCount "0" @default.
- W4246732014 crossrefType "journal-article" @default.
- W4246732014 hasAuthorship W4246732014A5022974613 @default.
- W4246732014 hasAuthorship W4246732014A5023664036 @default.
- W4246732014 hasAuthorship W4246732014A5029959676 @default.
- W4246732014 hasAuthorship W4246732014A5033318529 @default.
- W4246732014 hasAuthorship W4246732014A5061736502 @default.
- W4246732014 hasAuthorship W4246732014A5089633069 @default.
- W4246732014 hasConcept C104317684 @default.
- W4246732014 hasConcept C126322002 @default.
- W4246732014 hasConcept C169760540 @default.
- W4246732014 hasConcept C170493617 @default.
- W4246732014 hasConcept C197341189 @default.
- W4246732014 hasConcept C2777210258 @default.
- W4246732014 hasConcept C2777240379 @default.
- W4246732014 hasConcept C2778105408 @default.
- W4246732014 hasConcept C2779024559 @default.
- W4246732014 hasConcept C2780156709 @default.
- W4246732014 hasConcept C3020341438 @default.
- W4246732014 hasConcept C501734568 @default.
- W4246732014 hasConcept C54355233 @default.
- W4246732014 hasConcept C71924100 @default.
- W4246732014 hasConcept C75563809 @default.
- W4246732014 hasConcept C80161118 @default.
- W4246732014 hasConcept C86803240 @default.
- W4246732014 hasConceptScore W4246732014C104317684 @default.
- W4246732014 hasConceptScore W4246732014C126322002 @default.
- W4246732014 hasConceptScore W4246732014C169760540 @default.
- W4246732014 hasConceptScore W4246732014C170493617 @default.
- W4246732014 hasConceptScore W4246732014C197341189 @default.
- W4246732014 hasConceptScore W4246732014C2777210258 @default.
- W4246732014 hasConceptScore W4246732014C2777240379 @default.
- W4246732014 hasConceptScore W4246732014C2778105408 @default.
- W4246732014 hasConceptScore W4246732014C2779024559 @default.
- W4246732014 hasConceptScore W4246732014C2780156709 @default.
- W4246732014 hasConceptScore W4246732014C3020341438 @default.
- W4246732014 hasConceptScore W4246732014C501734568 @default.
- W4246732014 hasConceptScore W4246732014C54355233 @default.
- W4246732014 hasConceptScore W4246732014C71924100 @default.
- W4246732014 hasConceptScore W4246732014C75563809 @default.
- W4246732014 hasConceptScore W4246732014C80161118 @default.
- W4246732014 hasConceptScore W4246732014C86803240 @default.
- W4246732014 hasIssue "3" @default.
- W4246732014 hasLocation W42467320141 @default.
- W4246732014 hasOpenAccess W4246732014 @default.
- W4246732014 hasPrimaryLocation W42467320141 @default.
- W4246732014 hasRelatedWork W1516220989 @default.
- W4246732014 hasRelatedWork W1598476598 @default.
- W4246732014 hasRelatedWork W2017429468 @default.
- W4246732014 hasRelatedWork W2082745004 @default.
- W4246732014 hasRelatedWork W2119148360 @default.
- W4246732014 hasRelatedWork W2121890003 @default.
- W4246732014 hasRelatedWork W2139050516 @default.
- W4246732014 hasRelatedWork W2411985678 @default.
- W4246732014 hasRelatedWork W2588133979 @default.
- W4246732014 hasRelatedWork W2807344826 @default.
- W4246732014 hasVolume "127" @default.
- W4246732014 isParatext "false" @default.
- W4246732014 isRetracted "false" @default.
- W4246732014 workType "article" @default.