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A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
Wilson’s disease (WD) is an autosomal recessive genetic disease linked to ATP7B, which is located on the chromosome 13q14.3. We presently report a hepatolenticular degeneration carrier whose clinical phenotype mainly included limb weakness and tremor with a novel WD mutation. The mutation in Exon 10...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Society of Musculoskeletal and Neuronal Interactions
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716679/ https://www.ncbi.nlm.nih.gov/pubmed/33265091 |