Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report.

Shuo GuoHuiyu ZhongBi ZhaoDan YangZirui MengBinwu YingMinjin Wang

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)

This case reminds us that (CTA)n(CTG)n repeats are very prone to dynamic mutations in intergenerational inheritance, and the ATXN8/ATXN8OS gene penetrance is different in different SCA8 individuals, which suggests that genetic detection is of great importance.

Keyphrases

copy number
mitochondrial dna
genome wide
loop mediated isothermal amplification
early onset
dna methylation
real time pcr
label free
genome wide identification
gene expression