A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted patien...

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Detalles Bibliográficos
Autores principales: Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C., Arold, Stefan T., Dababo, Mohammad Anas, Alharbi, Omar A., Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M., Oláhová, Monika, Al-Shahrani, Saif A., AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W., AlOwain, Mohammed, Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563936/
https://www.ncbi.nlm.nih.gov/pubmed/36231115
http://dx.doi.org/10.3390/cells11193154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563936/
https://www.ncbi.nlm.nih.gov/pubmed/36231115
http://dx.doi.org/10.3390/cells11193154

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