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

• Main Authors: Katja Kloth (Author), Matthis Synofzik (Author), Christoph Kernstock (Author), Simone Schimpf-Linzenbold (Author), Frank Schuettauf (Author), Axel Neu (Author), Bernd Wissinger (Author), Nicole Weisschuh (Author)
• Format: Book
• Published: BMC, 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 car...