Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.

Ayse Candayan Arman ÇakarGulshan YunisovaAyşe Nur Özdağ AcarliDerek AtkinsonPınar TopaloğluHacer DurmuşZuhal YapıcıAlbena JordanovaYeşim ParmanEsra Battaloğlu

Published in: Neurology. Genetics (2021)

This study paints a genetic landscape of the Turkish ARCMT population and reports additional candidate genes that might help enlighten the mechanism of pathogenesis of the disease.

Keyphrases

genome wide
copy number
single cell
dna methylation
emergency department
cross sectional
gene expression
duchenne muscular dystrophy