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...

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Detalles Bibliográficos
Autores principales: Zhang, Zhengxiang, Liu, Jiayi, Zheng, Wenjing, Hou, Qun, Zhang, Liping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Society of Musculoskeletal and Neuronal Interactions 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716679/
https://www.ncbi.nlm.nih.gov/pubmed/33265091

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