Biology Dunne, Vanessa and Maselli, Thesis

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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).

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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 N88K and the CACGCA haplotype could not be completely excluded" (Dunne, & Maselli, 2005, p.369).

While it is quite tantalizing to believe that the founder effect is responsible for the heritage of the genetic mutation that causes congenital myasthenic syndrome, there is certainly the need for larger samples to be studied using the same SNP markers these authors employed to verify their results......

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