Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
|
| Materias: | |
| 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 |