Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2011 2
2012 1
2017 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 21"
Page 1
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B. Caggiano S, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):842-851. doi: 10.1016/j.ejpn.2017.07.010. Epub 2017 Jul 21. Eur J Paediatr Neurol. 2017. PMID: 28755803
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. ...Three infants required ventilatory support after the polygraphy, underlining its clinical us …
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained …
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Milone M, et al. Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc. Neurology. 2009. PMID: 19620612 Free PMC article.
BACKGROUND: Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes. METHODS: Clinical, electrophysiologic, pathologic, and molecular studies were done i …
BACKGROUND: Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynapti …
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D. Cossins J, et al. Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1. Hum Mol Genet. 2012. PMID: 22661499
Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neuromuscular junction and result in fatiguable muscle weakness. ...In addition, three silent variants in the N-terminal half of DOK7 are predi …
Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neurom …
A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.
Shen XM, Di L, Shen S, Zhao Y, Neumeyer AM, Selcen D, Sine SM, Engel AG. Shen XM, et al. Exp Neurol. 2020 Sep;331:113375. doi: 10.1016/j.expneurol.2020.113375. Epub 2020 Jun 3. Exp Neurol. 2020. PMID: 32504635 Free PMC article.
Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the alpha, delta, and epsilon but not the beta subunit of acetylcholine receptor (AChR). ...Patch clamp recordings of ACh-elicited single channel currents d …
Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the alpha, delta …
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. Mohney BG, et al. Ophthalmology. 2011 Jun;118(6):1137-44. doi: 10.1016/j.ophtha.2010.10.009. Epub 2011 Jan 13. Ophthalmology. 2011. PMID: 21236492 Free PMC article.
PURPOSE: To describe a novel laminin beta-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome. ...Comprehensive gene sequencing revealed a novel LAMB2 variant …
PURPOSE: To describe a novel laminin beta-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without mi …
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F. Robb SA, et al. Neuromuscul Disord. 2011 Jun;21(6):379-86. doi: 10.1016/j.nmd.2011.02.012. Epub 2011 Mar 25. Neuromuscul Disord. 2011. PMID: 21440438
Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS). We describe three children whose clinical and electrophysiological findings originally suggested C …
Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital …