Login / Signup

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.

Julian TheurietSheila MarteArnaud IsapofAlix de BecdelièvreMarina KonyukhStephanie M Laureano-FigueroaPhilippe LatourIsabelle QuadrioThierry MaisonobeAnthony AntonellisKristl G Claeys
Published in: Journal of the peripheral nervous system : JPNS (2024)
Our findings expand the clinical spectrum of NARS1-associated neuropathies, highlighting the association of NARS1 mutations with dHMN. The benign disease course observed in our patients suggests a slowly progressive phenotype. Further reports could contribute to a more comprehensive understanding of the spectrum of NARS1-associated neuropathies.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • multiple sclerosis