Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.
Kenji ShimizuDaiju ObaRyusuke NambuManabu TanakaEiji OgumaKei MurayamaAkira OhtakeKoh-Ichiro YoshiuraHirofumi OhashiPublished in: Molecular genetics & genomic medicine (2020)
We speculate that mitochondrial dysfunction may be a feature in patients with DDCH.