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Optic atrophy 12
- ... PubMed Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 Jul 13 [updated 2015 Nov 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... PubMed Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 Jul 13 [updated 2015 Nov 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- Age-Related Eye Disease Studies (AREDS/AREDS2) (National Eye Institute)National Eye Institute ... From the National Institutes of Health ... Macular Degeneration/Treatments and Therapies ... Macular Degeneration ... The Age-Related Eye Disease ...
- ... mitochondrial network. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. Citation on PubMed Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Dominant optic atrophy. Orphanet J Rare Dis. 2012 Jul 9;7: ...
- ... aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic ...
- ... Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12(1):e0170090. doi: ... for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41( ...
- ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
- ... 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. ...
- ... legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the breakdown (atrophy) of nerve cells ... speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected ...
- ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; HMSN6B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; ...