To date, the absence of IF1 has been correlated with only one human pathological condition of neuronal origin: a mitochondrial myopathy called Luft's disease, characterized by nonthyroidal hypermetabolism and densely packed mitochondrial cristae (it is one of the rarest of the mitochondrial diseases, with only two reported cases). The gene discussed is ATP5IF1; the disease is Mitochondrial myopathy.