DOK7 congenital myasthenic syndrome

Annals of the New York Academy of Sciences

Volumn 1275, Issue 1, 2012, Pages 49-53

  Palace, Jacqueline ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EPHEDRINE; MEMBRANE PROTEIN; PROTEIN DOK 7; SALBUTAMOL; UNCLASSIFIED DRUG;

ARTICLE; BULBAR PARALYSIS; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; DISEASE EXACERBATION; ELECTROMYOGRAPHY; FACIAL NERVE PARALYSIS; FALLING; FAMILY HISTORY; GENE MUTATION; HUMAN; MUSCLE ATROPHY; MUSCLE EXCITATION; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; MYOPATHY; NEUROPHYSIOLOGY; NEUROTRANSMISSION; PTOSIS; STRIDOR;

EID: 84871600460     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2012.06779.x     Document Type: Article

References (9)

1. Beeson, D., O. Higuchi, J. Palace, et al. 2006. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978.
2. Palace, J., D. Lashley, J. Newsom-Davis, et al. 2007. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 130: 1507-1515.
3. Muller, J.S., A. Herczegfalvi, J.J. Vilchez, et al. 2007. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 130: 1497-1506.
4. Selcen, D., M. Milone, X.M. Shen, et al. 2008. MD Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann. Neurol. 64: 71-87.
5. Ammar, A.B., F. Petit, N. Alexandri, et al. 2010. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J. Neurol. 257: 754-766.
6. Jephson, C.G., N.A. Mills, M.C. Pitt, et al. 2010. Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. Int. J. Ped. Otorhinolaryngol. 74: 991-994.
7. Lashley, D., J. Palace, S. Jayawant, et al. 2010. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 74: 1517-1523.
8. Burke, G., A. Hiscock, A. Klein, et al. 2011. Salbutamol treatment in children with DOK7 congenital myasthenic syndrome. Eur. J. Paed. Neurol. 15(Suppl 1): 2 abstract.
9. Slater, C.R., P.R. Fawcett, T.J. Walls, et al. 2006. Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain 129: 2061-2076.