Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene-related neuropathy patients.
Lei LiuXiaobo LiZhiqiang LinYongzhi XieShunxiang HuangHuadong ZhaoBeisha TangZhang RuxuPublished in: European journal of neurology (2023)
We reported four novel MPZ mutations that expanded the genetic spectrum. DNMs 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
- newly diagnosed
- big data
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- randomized controlled trial
- dna methylation
- early onset
- gene expression
- machine learning
- protein protein
- small molecule
- data analysis
- artificial intelligence
- phase iii