A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review

Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in th...

Source: BMC Medical Genomics - July 3, 2023 Category: Genetics & Stem Cells Authors: Mengxiao Shen, Qian Chen, Yanyan Gao, Hongyu Yan, Shuo Feng, Xinna Ji and Xue Zhang Tags: Case report Source Type: research