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Results 1 - 6 of 6 for Optic atrophy 8
  1. ... 10.1002/ajmg.a.37611. Epub 2016 Mar 8. Citation on PubMed ... neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann ...
  2. ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ... that is characterized by progressive hearing loss and optic atrophy leading to vision loss, typically beginning in adolescence. ...
  3. ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ...
  4. ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
  5. ... Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9. Citation on PubMed Reynolds ...
  6. ... ears, the skeleton, and the glands in the eyes and mouth in people with LADD syndrome. More ... of ligand. Biochim Biophys Acta. 2011 Aug;1808(8):2045-50. doi: 10.1016/j.bbamem.2011. ...