Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.
Liu LeiLi XiaoboLin ZhiqiangYongzhi XieHuang ShunxiangZhao HuadongTang BeishaZhang RuxuPublished in: European journal of neurology (2023)
Four novel MPZ mutations are reported that expand the genetic spectrum. De novo mutations accounted for 30.4% and were most related to a severe infantile-onset phenotype. Genetic and clinical data from this cohort will provide the baseline data necessary for clinical trials and natural history studies.
Keyphrases
- clinical trial
- genome wide
- end stage renal disease
- copy number
- electronic health record
- ejection fraction
- chronic kidney disease
- newly diagnosed
- big data
- prognostic factors
- early onset
- dna methylation
- machine learning
- gene expression
- small molecule
- amino acid
- multiple sclerosis
- artificial intelligence
- study protocol
- case control
- binding protein
- deep learning
- protein protein
- genome wide identification