A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.

Xianjun XuanJie RuanChunhong WuYiyi GaoLingfei LiXiaoguang Lei

Published in: CNS neuroscience & therapeutics (2023)

A new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII-deficient diseases.

Keyphrases

systematic review
meta analyses
multiple sclerosis
big data
machine learning
randomized controlled trial