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2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium

Most individuals with OCA1 are compound heterozygotes with different mutant maternal and paternal alleles.7 Missense mutations in the TYR gene are distributed among distinct regions of the coding sequence, which suggests that the encoded protein has multiple functional domains

1 The common age of onset of this condition is below 20, although it may occur at any stage of life