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 journalArticle

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

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Hereditary Sensory and Motor Neuropathy
Phenotype
Genes
Gene
Gene Expression

ASJC Scopus subject areas

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

Cite this

Sghirlanzoni, A., Pareyson, D., Balestrini, M. R., Bellone, E., Berta, E., Ciano, C., ... Marazzi, R. (1992). HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. Neurology, 42(11), 2201-2203.

HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. / Sghirlanzoni, Angelo; Pareyson, D.; Balestrini, M. R.; Bellone, E.; Berta, E.; Ciano, C.; Mandich, P.; Marazzi, R.

In: Neurology, Vol. 42, No. 11, 1992, p. 2201-2203.

Research output: Contribution to journalArticle

Sghirlanzoni, A, Pareyson, D, Balestrini, MR, Bellone, E, Berta, E, Ciano, C, Mandich, P & Marazzi, R 1992, 'HMSN III phenotype due to homozygous expression of a dominant HMSN II gene', Neurology, vol. 42, no. 11, pp. 2201-2203.
Sghirlanzoni A, Pareyson D, Balestrini MR, Bellone E, Berta E, Ciano C et al. HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. Neurology. 1992;42(11):2201-2203.
Sghirlanzoni, Angelo ; Pareyson, D. ; Balestrini, M. R. ; Bellone, E. ; Berta, E. ; Ciano, C. ; Mandich, P. ; Marazzi, R. / HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. In: Neurology. 1992 ; Vol. 42, No. 11. pp. 2201-2203.
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