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They are responsible for dysfunction of neuromuscular transmission giving rise to a condition of muscle weakness which is accentuated by exertion. In most cases, CMS begin in early childhood but later onset in adulthood is possible. Severity also varies from severe with respiratory failure to mild expression. (Richard, P, et. Al., 2004, p. 81)
The results of the author studies proved through the use of the SNP markers that a common haplotype was in fact present in all patients and relatives who carried the N88K mutation. However that were, "…two N88K homozygous individuals who were asymptomatic for the disease. The discordant haplotypes occurring in these two individuals suggest that a recombination event can occur intragenically, even in a short span of the rapsyn gene (8 kb)" (Dunne, & Maselli, 2005, p.367). The authors admit that while this correlation certainly suggest that the founder effect is a possible cause of the genetic heritage of N88K, the sample size was very small and that since the sequence CACGCA haplotype is relatively common within the normal population "…a coincidental association between...
(2004). Common founder effect of rapsyn N88K studied using intragenic markers. The Japan Society of Human Genetics and Springer-Verlag. 8 June 2004.
Richard, P., Gaudon, K., Haddad, H., Ammar, a.B., Genin, E., Bauche, S., Paturneau-Jouas, M., Muller, J.S., Lochmuller, H., Grid, D., Hamri, a., Nouioua, S., Tazir, M., Mayer, M., Desnuelle, C., Barois, a., Chabrol, B., Pouget, J., Koenig, J., Gouider-Khouja, N., Hentati, F., Eymard, B., Hantai. (2004). Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. Journal of Medical Genetics 2003; 40:e81; doi:10.1136/jmg.40.6.e81.
References
Dunne, Vanessa and Maselli, Ricardo a. (2004). Common founder effect of rapsyn N88K studied using intragenic markers. The Japan Society of Human Genetics and Springer-Verlag. 8 June 2004.
Richard, P., Gaudon, K., Haddad, H., Ammar, a.B., Genin, E., Bauche, S., Paturneau-Jouas, M., Muller, J.S., Lochmuller, H., Grid, D., Hamri, a., Nouioua, S., Tazir, M., Mayer, M., Desnuelle, C., Barois, a., Chabrol, B., Pouget, J., Koenig, J., Gouider-Khouja, N., Hentati, F., Eymard, B., Hantai. (2004). Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. Journal of Medical Genetics 2003; 40:e81; doi:10.1136/jmg.40.6.e81.
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