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
- copy number
- electronic health record
- end stage renal disease
- newly diagnosed
- ejection fraction
- big data
- prognostic factors
- dna methylation
- randomized controlled trial
- early onset
- patient reported outcomes
- binding protein
- protein protein
- phase ii
- patient reported
- amino acid
- transcription factor
- double blind