Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K.
Ververis A, et al. Among authors: mubaidin af.
J Med Genet. 2020 Mar;57(3):178-186. doi: 10.1136/jmedgenet-2019-106108. Epub 2019 Sep 11.
J Med Genet. 2020.
PMID: 31511340
Free PMC article.