Articles with "gars mutation" as a keyword



Photo by impulsq from unsplash

A recurrent GARS mutation causes distal hereditary motor neuropathy

Sign Up to like & get
recommendations!
Published in 2019 at "Journal of the Peripheral Nervous System"

DOI: 10.1111/jns.12353

Abstract: We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype ‐ motor weakness that began in late childhood, distal weakness in the arms and legs, a motor… read more here.

Keywords: causes distal; motor; gars mutation; mutation causes ... See more keywords