TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Eitemau Tebyg

• Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
  gan: Meyer, Esther, et al.
  Cyhoeddwyd: (2010)
• TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
  gan: Hanein, Sylvain, et al.
  Cyhoeddwyd: (2009)
• Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
  gan: Kloth, Katja, et al.
  Cyhoeddwyd: (2019)
• First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
  gan: La Morgia, Chiara, et al.
  Cyhoeddwyd: (2019)
• Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
  gan: Fraser, F C, et al.
  Cyhoeddwyd: (1977)