Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

@article{Birouk2003PhenotypicalFO,
  title={Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.},
  author={Nazha Birouk and Hamid Azzedine and Odile Dubourg and M P Muriel and Ali Benomar and Tarik Hamadouche and Thierry Maisonobe and R{\'e}da Ouazzani and Alexis Brice and Mohamed Yahyaoui and Taieb Chkili and Eric Le Guern},
  journal={Archives of neurology},
  year={2003},
  volume={60 4},
  pages={598-604}
}
BACKGROUND The first locus for demyelinating autosomal recessive Charcot-Marie-Tooth (ARCMT) disease was identified in 8q13, where mutations in GDAP1 have been found. Mutations in the same gene have been detected in families with axonal ARCMT disease. OBJECTIVE To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease associated with the S194X mutation in the GDAP1 gene. METHODS Four patients from a consanguineous… CONTINUE READING