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 Custom Filters

Results by year

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

Year Number of Results
1998 1
2000 1
2004 1
2006 2
2007 2
2008 1
2009 2
2010 1
2011 1
2013 5
2014 3
2015 3
2016 2
2017 1
2018 1
2019 1
2020 2
2023 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

27 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 7"
Page 1
An ocular motility conundrum.
McElnea EM, Stephenson K, Lanigan B, Flitcroft I. McElnea EM, et al. BMJ Case Rep. 2014 Oct 27;2014:bcr2014206862. doi: 10.1136/bcr-2014-206862. BMJ Case Rep. 2014. PMID: 25349186 Free PMC article.
Two siblings, an 11-year-old boy and a 7-year-old girl presented with bilateral symmetrical ptosis and limited eye movements. ...
Two siblings, an 11-year-old boy and a 7-year-old girl presented with bilateral symmetrical ptosis and limited eye movements. ...
Congenital myasthenia gravis.
Nizamani NB, Talpur KI, Memon MN. Nizamani NB, et al. J Coll Physicians Surg Pak. 2013 Jul;23(7):517-8. J Coll Physicians Surg Pak. 2013. PMID: 23823963
Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms pro …
Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness us …
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY. Tsao CY. Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26552645 Review.
They are characterized by fatigable weakness of the skeletal muscles with symptom onset from birth to early childhood. DOK7 (downstream of tyrosine kinase 7) congenital myasthenic syndrome was previously treated successfully with ephedrine and salbutam …
They are characterized by fatigable weakness of the skeletal muscles with symptom onset from birth to early childhood. DOK7 (downstream of t …
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S, Shi G, Bi FF, Huang K. Shao S, et al. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Curr Neuropharmacol. 2023. PMID: 36703579 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. ...Most studies were case reports, and none were randomized clinical trials. Our meta-analysis revealed evidence th …
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various …
A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan.
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K. Hamasaki Y, et al. BMC Nephrol. 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. BMC Nephrol. 2020. PMID: 32838745 Free PMC article.
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. ...Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent …
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and …
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC. Lorenzoni PJ, et al. J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19. J Neurol Sci. 2013. PMID: 23790237
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in …
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement …
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. McMacken G, et al. J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30. J Neurol. 2018. PMID: 29189923 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. ...RESULTS: Lack of genetic diagnosis was more common in CMS-EA than in CMS without EA (56% n = …
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of a …
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Lashley D, et al. Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf. Neurology. 2010. PMID: 20458068 Free PMC article. Clinical Trial.
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a characteristic limb girdle pattern of muscle weakness. ...METHODS: This was an open prospective follow-up study to determine muscle str …
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) wi …
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. ...A repetitive …
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, ar …
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Al-Muhaizea MA, AlQuait L, AlRasheed A, AlHarbi S, Albader AA, AlMass R, Albakheet A, Alhumaidan A, AlRasheed MM, Colak D, Kaya N. Al-Muhaizea MA, et al. Neuromuscul Disord. 2020 Jul;30(7):611-615. doi: 10.1016/j.nmd.2020.04.007. Epub 2020 May 15. Neuromuscul Disord. 2020. PMID: 32616363
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. ...VAMP1 mutations are associated with two main phenotypes: a) autosomal recessive congenital myasthenic syndrome and b) a …
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. ... …
27 results