HMSN III phenotype due to homozygous expression of a dominant HMSN II gene

Angelo Sghirlanzoni, D. Pareyson, M. R. Balestrini, E. Bellone, E. Berta, C. Ciano, P. Mandich, R. Marazzi

Research output: Contribution to journalArticlepeer-review

Abstract

Article abstract We describe two siblings with hereditary motor and sensory neuropathy (HMSN) type III. Their parents were both affected with autosomal dominant axonal HMSN. The neuropathy in the siblings probably resulted from homozygous expression of the HMSN II gene. Together with other reports of homozygous HMSN I, this family suggests that HMSN III is heterogenous and encompasses the most severe homozygous expression of neuropathic genes.

Original languageEnglish
Pages (from-to)2201-2203
Number of pages3
JournalNeurology
Volume42
Issue number11
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

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