Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

ConclusionWe speculate that mitochondrial dysfunction may be a feature in patients with DDCH.

Source: Molecular Genetics & Genomic Medicine - January 16, 2020 Category: Genetics & Stem Cells Authors: Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh ‐ichiro Yoshiura, Hirofumi Ohashi Tags: CLINICAL REPORT Source Type: research