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Synaptic congenital myasthenic syndrome

MedGen UID:
977878
•Concept ID:
CN294267
•
Disease or Syndrome
Synonyms: synaptic congenital myasthenic syndrome; synaptic congenital myasthenic syndromes; Synaptic congenital myasthenic syndromes
 
Monarch Initiative: MONDO:0020346
Orphanet: ORPHA98915

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Synaptic congenital myasthenic syndrome

Professional guidelines

PubMed

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE, Beeson D
Curr Opin Neurol 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. PMID: 31361628Free PMC Article
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Diagnosis

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.
Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL
J Med Genet 2009 Mar;46(3):203-8. doi: 10.1136/jmg.2008.063693. PMID: 19251977Free PMC Article
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.
Ifergane G, Al-Sayed I, Birk O, Harel T, Wirguin I
Eur J Neurol 2007 Mar;14(3):305-8. doi: 10.1111/j.1468-1331.2006.01657.x. PMID: 17355552
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Huebner A, Lochmüller H, Abicht A
Neuropediatrics 2004 Jun;35(3):183-9. doi: 10.1055/s-2004-820996. PMID: 15248101

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