Mutilating neuropathic ulcerations in a chromosome 3ql3-q22 linked Charcot-Marie- Tooth disease type 2B family

نویسندگان

  • Peter De Jonghe
  • Vincent Timmerman
  • David FitzPatrick
  • Petra Spoelders
  • Jean-Jacques Martin
  • Christine Van Broeckhoven
چکیده

Received 12 November 1996 and in revised form 16 January 1997 Accepted 14 February 1997 Abstract Background-Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an inherited axonal neuropathy of the peripheral nervous system. Three autosomal dominant CMT2 loci have been located on chromosomes lp35-p36 (CMT2A), 3ql3-q22 (CMT2B), and 7pl4 (CMT2D) indicating that CMT2 is a genetically heterogeneous disorder. Methods-A CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms. Results-Suggestive evidence for linkage

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تاریخ انتشار 2003