Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

The nosologic boundary of neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) remains ill defined and its genetic basis is unknown. A case of Davidenkow's syndrome with the monochromosomic 17p11.2 deletion that often is associated with hereditary neuropathy with liability to pressure palsies (HNPP) is described. The other allele at chromosome 17p11.2 locus was of normal length, and direct sequencing of the coding region of the peripheral nerve protein-22 gene in this allele revealed no additional mutation. The deleted allele in the proband was inherited from the paternal line in which the affected members had a late onset Charcot-Marie-Tooth type 1 clinical phenotype. This observation suggests that the rare Davidenkow's syndrome is clinically related to HNPP and its genotype could be a chromosome 17p11.2 deletion.

Original languageEnglish
Pages (from-to)668-671
Number of pages4
JournalMuscle and Nerve
Volume32
Issue number5
DOIs
StatePublished - Nov 1 2005

Fingerprint

Smith-Magenis Syndrome
Alleles
Chromosome Deletion
Peripheral Nerves
Tooth
Chromosomes
Genotype
Phenotype
Mutation
Proteins

Keywords

  • Davidenkow's syndrome
  • HNPP
  • Neuropathy
  • PMP-22
  • Scapuloperoneal syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion. / Verma, Ashok.

In: Muscle and Nerve, Vol. 32, No. 5, 01.11.2005, p. 668-671.

Research output: Contribution to journalArticle

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