The Leber hereditary optic neuropathy (LHON) is a disease due to a mtDNA mutation. The disorder results from enzymatic perturbations in the mitochondrial respiratory chain. Clinically the LHON may present as a progressive axonal atrophy of the optic nerves with or without other neurological symptoms.
View Article and Find Full Text PDFIn newborn females parallel investigations on: a) oestrogenisation symptoms, b) vaginal epithelium smears stained modo Shorr, c) sex chromatin positive nuclei in buccal epithelium smears, have been performed. Low frequency of sex chromatin in the day after birth suggested a relationship between hormone level and Barr bodies' appearance.
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