Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients

Muscle and Nerve

Volumn 43, Issue 4, 2011, Pages 574-577

  Alseth, Espen Homleid ^a   Maniaol, Angelina Hatløv ^b   Elsais, Ahmed ^c,d   Nakkestad, Hanne Linda ^a   Tallaksen, Chantal ^b,d   Gilhus, Nils Erik ^a,e   Skeie, Geir Olve ^a,e  

^a UNIVERSITY OF BERGEN   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF OSLO   (Norway)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Congenital myasthenic syndromes; Dok 7; Genetics; Rapsn; Seronegative myasthenia gravis

Indexed keywords

ARTICLE; CONTROLLED STUDY; DOK 7 GENE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYASTHENIA GRAVIS; PRIORITY JOURNAL; ADOLESCENT; ADULT; AGED; BLOOD; CHILD; CLINICAL TRIAL; COHORT ANALYSIS; COMPARATIVE STUDY; GENETICS; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NUCLEIC ACID DATABASE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; COHORT STUDIES; DATABASES, NUCLEIC ACID; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; MYASTHENIA GRAVIS; YOUNG ADULT;

DOK7 PROTEIN, HUMAN; MUSCLE PROTEIN; PERIPHERAL MEMBRANE PROTEIN 43K;

EID: 79953039986     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21919     Document Type: Article

References (27)

1. Meriggioli MN, Sanders DB. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurol 2009;8:475-490.
2. Grob D, Brunner N, Namba T, Pagala M. Lifetime course of myasthenia gravis. Muscle Nerve 2008;37:141-149. (Pubitemid 351214160)
3. Vincent A, Newsom-Davis J. Acetylcholine receptor antibody as a diagnostic test for myasthenia gravis: results in 153 validated cases and 2967 diagnostic assays. J Neurol Neurosurg Psychiatry 1985;48:1246-1252. (Pubitemid 16229407)
4. Vincent A, Leite MI. Neuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravis. Curr Opin Neurol 2005;18:519-525. (Pubitemid 41476137)
5. Leite MI, Jacob S, Viegas S, Cossins J, Clover L, Morgan BP, et al. IgG1 antibodies to acetylcholine receptors in 'seronegative' myasthenia gravis. Brain 2008;131:1940-1952.
6. Engel AG, Sine SM. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005;5:308-321. (Pubitemid 40674255)
7. Muller JS, Mihaylova V, Abicht A, Lochmuller H. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 2007;9:1-20. (Pubitemid 47261141)
8. Beeson D, Hantai D, Lochmuller H, Engel AG. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, The Netherlands. Neuromuscul Disord 2005;15:498-512.
9. Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, et al. Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology 2003;61:826-828. (Pubitemid 37174482)
10. Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 2004;14:356-364. (Pubitemid 38622367)
11. Muller JS, Mildner G, Muller-Felber W, Schara U, Krampfl K, Petersen B, et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003;60:1805-1810. (Pubitemid 36737078)
12. Muller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, et al. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006;67:1159-1164. (Pubitemid 44563821)
13. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, et al. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006;313:1975-1978. (Pubitemid 44498007)
14. Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauche S, Rouche A, et al. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 2010;257:754-766.
15. Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007;130:1497-1506. (Pubitemid 47355920)
16. Lefvert AK, Bergstrom K, Matell G, Osterman PO, Pirskanen R. Determination of acetylcholine receptor antibody in myasthenia gravis: clinical usefulness and pathogenetic implications. J Neurol Neurosurg Psychiatry 1978;41:394-403. (Pubitemid 8323892)
17. Matthews I, Chen S, Hewer R, McGrath V, Furmaniak J, Rees Smith B. Muscle-specific receptor tyrosine kinase autoantibodies - a new immunoprecipitation assay. Clin Chim Acta 2004;348:95-99. (Pubitemid 39209006)
18. Muller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, et al. The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. J Med Genet 2004;41:e104.
19. Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauche S, et al. Possible founder effect of rapsn N88K mutation and identification of novel rapsn mutations in congenital myasthenic syndromes. J Med Genet 2003;40:e81.
20. Dunne V, Maselli RA. Common founder effect of rapsn N88K studied using intragenic markers. J Hum Genet 2004;49:366-369. (Pubitemid 39045035)
21. Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002;70:875-885. (Pubitemid 34259304)
22. Engel AG. The therapy of congenital myasthenic syndromes. Neurotherapeutics 2007;4:252-257. (Pubitemid 46467536)
23. Froehner SC, Luetje CW, Scotland PB, Patrick J. The postsynaptic 43K protein clusters muscle nicotinic acetylcholine receptors in Xenopus oocytes. Neuron 1990;5:403-410. (Pubitemid 20369576)
24. Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, et al. Myasthenic syndrome due to defects in rapsn: clinical and molecular findings in 39 patients. Neurology 2009;73:228-235.
25. Inoue A, Setoguchi K, Matsubara Y, Okada K, Sato N, Iwakura Y, et al. Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. Sci Signal 2009;2:ra7.
26. Vincent A, Leite MI, Farrugia ME, Jacob S, Viegas S, Shiraishi H, et al. Myasthenia gravis seronegative for acetylcholine receptor antibodies. Ann NY Acad Sci 2008;1132:84-92. (Pubitemid 351841363)
27. Shiraishi H, Motomura M, Yoshimura T, Fukudome T, Fukuda T, Nakao Y, et al. Acetylcholine receptors loss and postsynaptic damage in MuSK antibody-positive myasthenia gravis. Ann Neurol 2005;57:289-293. (Pubitemid 40179868)