Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

Nesti, Claudia; Meschini, Maria Chiara; Meunier, Brigitte; Sacchini, Michele; Doccini, Stefano; Romano, Alessandro; Petrillo, Sara; Pezzini, Ilaria; Seddiki, Nadir; Rubegni, Anna; Piemonte, Fiorella; Donati, M Alice; Brasseur, Gael; Santorelli, Filippo M

Nesti, Claudia; Meschini, Maria Chiara; Meunier, Brigitte; Sacchini, Michele; Doccini, Stefano; Romano, Alessandro; Petrillo, Sara; Pezzini, Ilaria; Seddiki, Nadir; Rubegni, Anna; Piemonte, Fiorella; Donati, M Alice; Brasseur, Gael; Santorelli, Filippo M.

Affiliation

Nesti C; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Meschini MC; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Meunier B; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, 1 Avenue de la Terrasse, 91198 Gif-sur-Yvette, France.
Sacchini M; Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy.
Doccini S; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Romano A; Neuropathology Unit, Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Petrillo S; Unit for Neuromuscular and Neurodegenerative Diseases, "Bambino Gesù" Children's Hospital, Rome, Italy and.
Pezzini I; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Seddiki N; Laboratoire de Chimie Bactérienne, CNRS, 31 ch. J. Aiguier, 13402 Marseilles, France.
Rubegni A; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Piemonte F; Unit for Neuromuscular and Neurodegenerative Diseases, "Bambino Gesù" Children's Hospital, Rome, Italy and.
Donati MA; Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy.
Brasseur G; Laboratoire de Chimie Bactérienne, CNRS, 31 ch. J. Aiguier, 13402 Marseilles, France.
Santorelli FM; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy filippo3364@gmail.com.

Hum Mol Genet ; 24(11): 3248-56, 2015 Jun 01.

Article de En | MEDLINE | ID: mdl-25736212

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Encéphalomyopathies mitochondriales Type d'étude: Diagnostic_studies Limites: Adult / Female / Humans Langue: En Journal: Hum Mol Genet Sujet du journal: BIOLOGIA MOLECULAR / GENETICA MEDICA Année: 2015 Type de document: Article Pays d'affiliation: Italie Pays de publication: Royaume-Uni

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