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Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).

Authors
  • Müller, E
  • Mostacciuolo, M L
  • Micaglio, G
  • Angelini, C
  • Danieli, G A
Type
Published Article
Journal
Human genetics
Publication Date
Nov 01, 1992
Volume
90
Issue
3
Pages
231–234
Identifiers
PMID: 1487234
Source
Medline
License
Unknown

Abstract

Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subjects with normal electromyographic (EMG) findings. This observation confirms previous data indicating the association of the duplication with the disease, suggesting that, at least in populations of European origin, the duplication might be the molecular feature diagnostic of the pathological trait.

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