A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease

A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease

Abstract Background The genetic cause for the majority of patients with late‐onset axonal form of neuropathies have remained unknown. In this study we aimed to identify the causal mutation in a family with multiple affected individuals manifesting a range of phenotypic features consistent with late‐...

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书目详细资料
Main Authors: Zeinab Jamiri, Rana Khosravi, Mohammad Mehdi Heidari, Ebrahim Kiani, Javad Gharechahi
格式: 文件
语言:English
出版: Wiley 2022-05-01
丛编:Molecular Genetics & Genomic Medicine
主题:
Charcot–Marie–Tooth disease
membrane metalloendopeptidase
polyneuropathy
Sanger sequencing
whole exome sequencing
在线阅读:https://doi.org/10.1002/mgg3.1913

因特网

https://doi.org/10.1002/mgg3.1913

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