A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review
Abstract Background 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 the ACOX1 gene, which encodes straight-chain acyl-CoA oxidase, on chromos...
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2023-07-01T00:00:00Z.
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