Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 9, 2010, Pages 973-977

  Mihaylova, V ^a   Scola, R H ^b   Gervini, B ^b   Lorenzoni, P J ^b   Kay, C K ^b   Werneck, L C ^b   Stucka, R ^a   Guergueltcheva, V ^a   Von Der Hagen, M ^c   Huebner, A ^c   Abicht, A ^a   Muller J S ^d   Lochmüller, Hanns ^d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; CYTOPLASMIC PROTEIN DOK 7; PROTEIN SUBUNIT; RAPSYN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BRAZIL; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETICS; HAPLOTYPE; HUMAN; MALE; PORTUGAL; PREVALENCE; PRIORITY JOURNAL; RECESSIVE GENE; SPAIN; CHILD; INFANT; METHODOLOGY; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; BRAZIL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC TESTING; HAPLOTYPES; HUMANS; INFANT; MALE; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE;

EID: 77956621589     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.177816     Document Type: Article

References (13)

1. Müller JS, Mihaylova V, Abicht A, et al. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 2007;9:1-20. (Pubitemid 47261141)
2. Maselli RA, Ng JJ, Anderson JA, et al. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet 2009;46:203-8.
3. Selcen D, Milone M, Shen XM, et al. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol 2008;64:71-87.
4. Ohno K, Anlar B, Özdirim E, et al. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998;44:234-41.
5. Engel AG, Ohno K, Bouzat C, et al. End-plate acetylcholine receptor deficiency due to nonsense mutations in the e subunit. Ann Neurol 1996;40:810-17. (Pubitemid 26415197)
6. Ohno K, Tsujino A, Shen XM, et al. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. J Med Genet 2005;42:e53.
7. Müller JS, Herczegfalvi A, Vilchez JJ, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007;130:1497-506.
8. Mihaylova V, Müller JS, Vilchez JJ, et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008;131:747-59.
9. Engel AG, Ohno K, Milone M, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndromes. Hum Mol Genet 1996;5:1217-27.
10. Sine SM, Ohno K, Bouzat C, et al. Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995;15:229-39.
11. Beeson D, Hantai D, Lochmüller H, et al. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, The Netherlands. Neuromuscul Disord 2005;15:498-512.
12. Alves-Silva J, Santos M, Guimaraes P, et al. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 2000;67:444-61.
13. Hantai D, Richard P, Koenig J, et al. Congenital myasthenic syndromes. Curr Opin Neurol 2004;17:539-51.