Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

BACKGROUND: Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an id...

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Detalles Bibliográficos
Autores principales: Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454730/
https://www.ncbi.nlm.nih.gov/pubmed/30961538
http://dx.doi.org/10.1186/s12881-019-0795-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454730/
https://www.ncbi.nlm.nih.gov/pubmed/30961538
http://dx.doi.org/10.1186/s12881-019-0795-x

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