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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |