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

BACKGROUND: Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash...

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Bibliografische gegevens
Gepubliceerd in:J Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2020
Onderwerpen:
Neurogenetics
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042970/
https://ncbi.nlm.nih.gov/pubmed/31511340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106108
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