Article
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Human molecular genetics - 27 Jun 2020
Pantera Harrison, Hu Bo, Moiseev Daniel, Dunham Chris, Rashid Jibraan, Moran John J, Krentz Kathleen, Rubinstein C Dustin, Won Seongsik, Li Jun, Svaren John
Abstract excerpt
Copy number variation of the peripheral nerve myelin gene Peripheral Myelin Protein 22 (PMP22) causes multiple forms of inherited peripheral neuropathy. The duplication of a 1.4 Mb segment surrounding this gene in chromosome 17p12 (c17p12) causes the most common form of Charcot-Marie-Tooth disease type 1A, whereas the reciprocal deletion of this gene causes a separate neuropathy termed hereditary neuropathy with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.