Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

le Ververis, Antonis, Dajani, Rana, Koutsou, Pantelitsa, Aloqaily, Ahmad, Nelson-Williams, Carol, Loring, Erin, Arafat, Ala, Mubaidin, Ammar Fayez, Horany, Khalid, Bader, Mai B, Al-Baho, Yaqoub, Ali, Bushra, Muhtaseb, Abdurrahman, DeSpenza Jr, Tyrone, Al-Qudah, Abdelkarim A, Middleton, Lefkos T, Zamba-Papanicolaou, Eleni, Lifton, Richard, Christodoulou, Kyproula
Foilsithe in J Med Genet (2020)