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

• Главные авторы: Katja Kloth (Автор), Matthis Synofzik (Автор), Christoph Kernstock (Автор), Simone Schimpf-Linzenbold (Автор), Frank Schuettauf (Автор), Axel Neu (Автор), Bernd Wissinger (Автор), Nicole Weisschuh (Автор)
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• Опубликовано: BMC, 2019-04-01T00:00:00Z.
• Предметы: article
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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...