Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

@article{BissarTadmouri2000MutationalAA,
  title={Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.},
  author={Nisrine Bissar-Tadmouri and Yeşim G Parman and L. Boutrand and Feza Deymeer and Piraye Serdaroğlu and Antoon Vandenberghe and E Battaloglu},
  journal={Clinical genetics},
  year={2000},
  volume={58 5},
  pages={396-402}
}
The major Charcot- Marie-Tooth Type 1 (CMT1) locus, CMT1A, and Hereditary neuropathy with liability to pressure palsies (HNPP) cosegregate with a 1.5-Mb duplication and a 1.5-Mb deletion, respectively, in band 17p11.2. Point mutations in peripheral myelin gene 22 (PMP22), myelin protein zero (MPZ), and connexin 32 (Cx32) have been reported in CMT1, and in PMP22 in HNPP patients without deletion. We have screened 54 CMT1 patients, of variable clinical severity, and 25 HNPP patients from Turkey… CONTINUE READING
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