Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy

SLC25A46 is a mitochondrial protein involved in mitochondrial dynamics. Recently, bi-allelic variants have been identified as a pathogenic cause in a spectrum of neurological syndromes. We report a novel homozygous SLC25A46 variant in two siblings, originating from Iraq. Both presented with optic at...

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Detalles Bibliográficos
Autores principales: Kodal, Louise Sloth, Hammer-Hansen, Sophia, Holm-Yildiz, Sonja, Grønskov, Karen, Karstensen, Helena Gásdal, Dysgaard, Tina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790965/
https://www.ncbi.nlm.nih.gov/pubmed/36578309
http://dx.doi.org/10.3389/fneur.2022.1066040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790965/
https://www.ncbi.nlm.nih.gov/pubmed/36578309
http://dx.doi.org/10.3389/fneur.2022.1066040

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