Zobrazeno 1 - 10
of 256
pro vyhledávání: '"Congenital myasthenia"'
Publikováno v:
American Journal of Perinatology Reports, Vol 14, Iss 03, Pp e193-e196 (2024)
Congenital myasthenia gravis syndrome (CMS) is a rare genetic heterogeneous disorder due to abnormal neuromuscular transmission caused by several genes. CMS caused by choline acetyltransferase (ChAT) gene mutations have been reported in 53 cases sinc
Externí odkaz:
https://doaj.org/article/374cee4b1ed34c888de78712a146b60c
Publikováno v:
JA Clinical Reports, Vol 8, Iss 1, Pp 1-3 (2022)
Abstract Background Congenital myasthenia syndrome is a heterogeneous disease with impaired neuromuscular transmission. Case presentation This report describes a 13-year-old child with congenital myasthenia syndrome who underwent surgery for scoliosi
Externí odkaz:
https://doaj.org/article/f3933bcda20d45b597b4ac6aff3812d9
Autor:
Kaiyan Jiang, Yilei Zheng, Jing Lin, Xiaorong Wu, Yanyan Yu, Min Zhu, Xin Fang, Meihong Zhou, Xiaobing Li, Daojun Hong
Publikováno v:
Brain and Behavior, Vol 12, Iss 2, Pp n/a-n/a (2022)
Abstract Introduction Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb‐girdle myasthenia with tubular aggregates. However, not all patients show tubular aggregates in muscle bi
Externí odkaz:
https://doaj.org/article/4849c52626814e50bd00492ad2286d1e
Publikováno v:
Heliyon, Vol 7, Iss 5, Pp e06869- (2021)
Congenital myasthenia syndrome (CMS) is a group of heterogeneous diseases affecting the neuromuscular endplate. CMS has a considerably different phenotypic presentations, with the onset time ranging from early infancy to late adulthood. Here, we repo
Externí odkaz:
https://doaj.org/article/b6088a03b11543489d50d20ce7c60351
Autor:
Sally Spendiff, Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O'Connor, Clarke Slater, Stefan Hettwer, Armin Mäder, Andreas Roos, Rita Horvath, Hanns Lochmüller
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early with fatigable weakness and
Externí odkaz:
https://doaj.org/article/abdd85adee9246eda39df3320d66f035
Akademický článek
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Autor:
Denis Kudryavtsev, Anastasia Isaeva, Daria Barkova, Ekaterina Spirova, Renata Mukhutdinova, Igor Kasheverov, Victor Tsetlin
Publikováno v:
Molecules, Vol 26, Iss 5, p 1278 (2021)
Slow-channel congenital myasthenic syndromes (SCCMSs) are rare genetic diseases caused by mutations in muscle nicotinic acetylcholine receptor (nAChR) subunits. Most of the known SCCMS-associated mutations localize at the transmembrane region near th
Externí odkaz:
https://doaj.org/article/1883d9d82ce144528da8b6cc88ccab2a
Akademický článek
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Autor:
Partha S. Ghosh, Devin E Prior
Publikováno v:
Journal of Child Neurology. 36:610-617
Background: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e7c4683f6f7c5a2039815146d09f12
https://doi.org/10.1177/0883073820987755
https://doi.org/10.1177/0883073820987755
Publikováno v:
Annals of Indian Academy of Neurology, Vol 16, Iss 3, Pp 338-341 (2013)
Introduction: Congenital myasthenia syndrome (CMS) is a rare, heterogeneous group of genetically determined, disorder of neuromuscular transmission. They have a varied presentation and progression and very few studies have addressed the natural histo
Externí odkaz:
https://doaj.org/article/f42bca3c68c440f3bef778b18ee534e0