Hereditary Motor and Sensory Neuropathy Mutation

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.

Keywords

• de-novo mutation
• autosomal recessive
• genetic loci