distal hereditary motor neuronopathy

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou

Journal of Medical Genetics Mar 2020, 57 (3) 178-186; DOI: 10.1136/jmedgenet-2019-106108

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distal hereditary motor neuronopathy