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Summary
LEBER CONGENITAL AMAUROSIS 11 LCA11
613837
OMIM = Online Medalian Inheritance of Men
65
7q32.1
rare
autosomal dominant
mutation in the IMPDH1 gene
symptoms
impaired visual acuity
night blindness
nystagmus
onset, childhood
laboratory finding
Literature
Matilainen S,et al.Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndromeHum Mol Genet26173352-33612017
Almalki A,et al.Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiencyBiochim Biophys Acta1842156-642014
Elo JM,et al.Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathyHum Mol Genet21204521-45292012
von Ameln S,et al.A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing lossAm J Hum Genet915919-9272012
Shamseldin HE,et al.Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genesJ Med Genet494234-2412012