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

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

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...

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Bibliographic Details
Main Authors: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Medical Genetics
Subjects:
Optic atrophy
Autosomal recessive
TMEM126A
Online Access:http://link.springer.com/article/10.1186/s12881-019-0795-x

Internet

http://link.springer.com/article/10.1186/s12881-019-0795-x

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