SOD1-G93R zebrafish showed decreased embryonic nerve length with increased BMAA dose, a phenotypic change mirrored in 5-month performance measures of weaker swimming and increased fatigability.
It could further be shown that volunteers homozygous for the T-allele of SNP rs2416054 showed higher scores in the HA4 subscale 'Fatigability and asthenia' (Pnominal=0.0006), remaining significant after correction for multiple testing (Pwy-corrected=0.045).
The missense mutation I336T has been identified in Turkish population, and most of the cases carrying this mutation present with exercise-induced fatigability and ptosis.