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Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S55-62. doi: 10.1007/s10545-009-9020-y. Epub 2010 Jan 16.
J Inherit Metab Dis. 2010.
PMID: 20082143
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.
Naïmi M, et al.
Eur J Hum Genet. 2006 Aug;14(8):917-22. doi: 10.1038/sj.ejhg.5201627. Epub 2006 Apr 26.
Eur J Hum Genet. 2006.
PMID: 16639411
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