A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.

@article{Blumen2012ARR,
  title={A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.},
  author={Sergiu C. Blumen and St{\'e}phanie Astord and Val{\'e}rie Robin and Ludivine Vignaud and Nawel Toumi and Aurore Cieslik and Anat Achiron and Ralph L Carasso and Michael Gurevich and Itzhak Braverman and Nava Blumen and Arnold Munich and Martine Barkats and Louis Viollet},
  journal={Annals of neurology},
  year={2012},
  volume={71 4},
  pages={509-19}
}
OBJECTIVE Distal hereditary motor neuropathies (dHMN) form a clinically and genetically heterogeneous group of disorders, characterized by muscle weakness and atrophy predominating at the distal part of the limbs, due to the progressive degeneration of motor neurons in the spinal cord. We report here a novel rare variant of dHMN with autosomal recessive inheritance in a large Jewish family originating from Morocco. The disease is characterized by a predominance of paralysis at the lower limbs… CONTINUE READING