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

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 chromosome 17q2...

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Detalles Bibliográficos
Autores principales: Shen, Mengxiao, Chen, Qian, Gao, Yanyan, Yan, Hongyu, Feng, Shuo, Ji, Xinna, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10318832/
https://www.ncbi.nlm.nih.gov/pubmed/37400800
http://dx.doi.org/10.1186/s12920-023-01577-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10318832/
https://www.ncbi.nlm.nih.gov/pubmed/37400800
http://dx.doi.org/10.1186/s12920-023-01577-w

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