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596 + 2146A G, p.(Gly199_Thr200ins5*) on the second allele which is not detected by exome sequencing. In summary, we present the fourth family with TIMMDC1-related disease, with a novel nonsense variant. This report illustrates the importance of considering mitochondrial disease even when laboratory findings are normal, and the added value of targeted sequencing of introns.Stimuli caused by self-initiated actions are perceived as less intense than those caused externally; this effect is called sensory attenuation (SA). In two experi
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