Riboflavin Responsive Slowly Progressive Early Onset Motor Neuron Disease Caused by a Novel Mutation in AIFM1 (P2-11.034)
Here, we present a novel association between a novel likely pathogenic hemizygous c.617A>G/p.(Gln206Arg) variant in AIFM1 and a teen age onset slowly progressive pure motor neuron disease, thus expanding the spectrum of AIFM1-related phenotypes.
Authors
- Arman Çakar (ORCID: https://orcid.org/0000-0002-8129-4172)
- Evren Önay Uçar (ORCID: https://orcid.org/0000-0003-1152-4881)
- Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
- Fatma Yeşim Parman
- Serdar Ceylaner (ORCID: https://orcid.org/0000-0003-2786-1911)
- Ebru Erzurumluoğlu Gökalp (ORCID: https://orcid.org/0000-0002-1275-5174)
- Hacer Durmuş
Institutions
- Eskişehir Osmangazi University (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211252
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81