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 of ATP7B Gene [c.2480G>A p. (Arg827Gln)] was identified after gene sequencing. We have provided diagnostic analyses, such as muscle biopsy and electrophysiology, which would be helpful to deepen the understanding of the pathogenesis underneath nerve damage in WD heterozygote carriers(Hzc).