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A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: malandrini a. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels.
Federico A, Baracchini G, Dotti MT, Ibba L, Malandrini A, Ciacci G, Meloni M, Palmeri S, Pompella A, Guazzi GC. Federico A, et al. Among authors: malandrini a. J Inherit Metab Dis. 1988;11 Suppl 2:178-82. doi: 10.1007/BF01804229. J Inherit Metab Dis. 1988. PMID: 2846958 No abstract available.
228 results