Torthaí cuardaigh - Cormier, V

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. de réir Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A

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mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. de réir Cormier, V, Rötig, A, Geny, C, Cesaro, P, Dufier, J L, Munnich, A

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Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). de réir Rötig, A, Cormier, V, Chatelain, P, Francois, R, Saudubray, J M, Rustin, P, Munnich, A

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Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. de réir Rötig, A, Bessis, J L, Romero, N, Cormier, V, Saudubray, J M, Narcy, P, Lenoir, G, Rustin, P, Munnich, A

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. de réir Rötig, A, Cormier, V, Blanche, S, Bonnefont, J P, Ledeist, F, Romero, N, Schmitz, J, Rustin, P, Fischer, A, Saudubray, J M

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