Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
نویسندگان
چکیده
P Richard, K Gaudon, F Andreux, E Yasaki, C Prioleau, S Bauché, A Barois, C Ioos, M Mayer, M C Routon, M Mokhtari, J P Leroy, E Fournier, B Hainque, J Koenig, M Fardeau, B Eymard, D Hantaï . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. Autosomal recessive acetylcholine receptor (AChR) deficiency syndromes, in which levels of this receptor at the neuromuscular junction are severely reduced, may be caused by mutations within genes encoding the AChR or the AChR-clustering protein, rapsyn. Most patient...
متن کاملRapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified to date stem from a deficiency or kinetic abnormality of the acetylcholine receptor (AChR). All CMSs with a kinetic abnormality of AChR, as well as many CMSs with a deficiency of AChR, have been traced to mutations in AChR-...
متن کاملONLINE MUTATION REPORT Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders
M utations in RAPSN, a gene encoding rapsyn, a molecule that clusters acetylcholine receptors at the motor endplate, cause endplate acetylcholine receptor deficiency. Müller and colleagues recently reported that N88K is a frequent mutation in RAPSN. By genotyping 17 mutant K88 chromosomes for two RAPSN polymorphisms (IVS3-11delC and 456T/C) and a microsatellite marker D11S4117 (fig 1A) in 12 pa...
متن کاملLack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
M utations in RAPSN, a gene encoding rapsyn, a molecule that clusters acetylcholine receptors at the motor endplate, cause endplate acetylcholine receptor deficiency. Müller and colleagues recently reported that N88K is a frequent mutation in RAPSN. By genotyping 17 mutant K88 chromosomes for two RAPSN polymorphisms (IVS3-11delC and 456T/C) and a microsatellite marker D11S4117 (fig 1A) in 12 pa...
متن کاملThe congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
O nly recently, mutations of the RAPSN gene have been recognised as causing acetylcholine receptor deficiency at the motor endplate resulting in early and late onset forms of congenital myasthenic syndromes (CMS). In most studies a single missense mutation of RAPSN (N88K) was detected either homozygously or compound heterozygously in numerous, unrelated patients of European and North American o...
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عنوان ژورنال:
- Journal of medical genetics
دوره 40 6 شماره
صفحات -
تاریخ انتشار 2003