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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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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author Zhang, Zhengxiang
Liu, Jiayi
Zheng, Wenjing
Hou, Qun
Zhang, Liping
author_facet Zhang, Zhengxiang
Liu, Jiayi
Zheng, Wenjing
Hou, Qun
Zhang, Liping
author_sort Zhang, Zhengxiang
collection PubMed
description 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).
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spelling pubmed-77166792020-12-09 A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report Zhang, Zhengxiang Liu, Jiayi Zheng, Wenjing Hou, Qun Zhang, Liping J Musculoskelet Neuronal Interact 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). International Society of Musculoskeletal and Neuronal Interactions 2020 /pmc/articles/PMC7716679/ /pubmed/33265091 Text en Copyright: © Journal of Musculoskeletal and Neuronal Interactions http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 4.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Zhang, Zhengxiang
Liu, Jiayi
Zheng, Wenjing
Hou, Qun
Zhang, Liping
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
title A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
title_full A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
title_fullStr A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
title_full_unstemmed A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
title_short A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
title_sort novel heterozygous carrier of atp7b mutation with muscle weakness and tremor: a chinese case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716679/
https://www.ncbi.nlm.nih.gov/pubmed/33265091
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