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Retinitis pigmentosa 2
- ... DELXp11.3 KIAA0215 NM23-H10 NME10 protein XRP2 retinitis pigmentosa 2 (X-linked recessive) TBCCD2 XRP2 XRP2_HUMAN Tests ... AJ, Cheetham ME. Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. Exp Eye Res. 2006 Apr;82( ...
- ... Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007 Feb;125(2):151-8. doi: 10.1001/archopht.125.2.151. Citation on PubMed or Free article on PubMed Central ... autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008;613:203- ...
- ... in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Citation on ...
- ... TSPAN22 Tests of PRPH2 PubMed FUNDUS ALBIPUNCTATUS PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den ...
- ... intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196. Citation ...
- Mitochondrial Disorders (National Institute of Neurological Disorders and Stroke)Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
- Leigh Syndrome (National Institute of Neurological Disorders and Stroke)Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... National Institute of Neurological ...
- Mitochondrial DNA Depletion Syndrome (Alpers' Disease) (National Institute of Neurological Disorders and Stroke)Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Mitochondrial Diseases/Specifics
- Kearns-Sayre Syndrome (National Institute of Neurological Disorders and Stroke)Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Institute of Neurological Disorders and Stroke ... From ...
- ... of a spectrum of overlapping features rather than two distinct syndromes. NARP NARP syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentos Genetic Testing Registry: ...