Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene - Tranebjærg, Lisbeth; Jensen, Peter K.A.; Van Ghelue, Marijke; Vnencak-Jones, Cindy L.; Sund, Staale; Elgjo, Kjell; Jakobsen, Johannes; Lindal, Sigurd; Warburg, Mette; Fuglsang-Frederiksen, Anders; Skullerud, Kari (Ophthalmic genetics, 2001)
Keywords: Adolescent; Adult; Aged; Cell Death; Child; Deafness - genetics; Deafness - pathology; DNA Mutational Analysis; Dystonia - genetics; Dystonia - pathology; Electron Transport Complex IV - metabolism; Evoked Potentials, Visual; Female; Genes, Recessive; Genetic Linkage; Humans; Immunoenzyme Techniques; Male; Middle Aged; Mitochondrial Diseases - genetics; Mitochondrial Diseases - physiopathology; Mutation - genetics; Neurons - pathology; Optic Nerve Diseases - genetics; Optic Nerve Diseases - pathology; Pedigree; Phosphopyruvate Hydratase - metabolism; Polymerase Chain Reaction; Proteins - genetics; Syndrome; Visual Cortex - pathology; X Chromosome - genetics