A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

@article{Maystadt2006AGF,
  title={A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.},
  author={Isabelle Maystadt and Mohammed Zarhrate and Danielle Leclair-Richard and Brigitte Estournet and Annie Barois and Francis Renault and M-C Routon and M C Durand and Suzie Lefebvre and Arnold Munnich and Christine Verellen-Dumoulin and Louis Viollet},
  journal={Neurology},
  year={2006},
  volume={67 1},
  pages={120-4}
}
OBJECTIVE To describe the clinical features of a novel variant of autosomal recessive lower motor neuron disease (LMND) with childhood onset and to map the disease-causing gene. METHODS The authors performed a clinical study in a large consanguineous African family. After linkage exclusion to SMN1 and SOD1 loci, they performed a genome-wide linkage analysis to map the underlying genetic defect. RESULTS This novel variant of LMND with childhood onset and autosomal recessive mode of… CONTINUE READING