Hereditary Motor and Sensory Neuropathy Mutation

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-6-6-5

Keywords:

De-Novo Mutation, Autosomal Recessive, Genetic Loci

Abstract

A duplication in chromosome 17 responsible for most cases of autosomal dominant HMSN 1 was present as a de-novo mutation in 9 out of 10 sporadic patients examined at the Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

Published

1992-06-01

Issue

Section

Neuromuscular Disorders