Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

• Hoofdauteurs: Peter Chung (Auteur), Hope Northrup (Auteur), Misbah Azmath (Auteur), Ricardo A. Mosquera (Auteur), Shade Moody (Auteur), Aravind Yadav (Auteur)
• Formaat: Boek
• Gepubliceerd in: Hindawi Limited, 2018-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in fami...