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A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
Giannese, Domenico; Montano, Vincenzo; Lopriore, Piervito; Nesti, Claudia; LoGerfo, Annalisa; Caligo, Maria Adelaide; Dal Canto, Flavio; Pasquinelli, Gianandrea; Bonadio, Angelo Giovanni; Moriconi, Diego; Siciliano, Gabriele; Mancuso, Michelangelo.
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  • Giannese D; Department of Clinical and Experimental Medicine, Nephrology, Transplant and Dialysis Division, University Hospital of Pisa, Pisa, Italy.
  • Montano V; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
  • Lopriore P; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
  • Nesti C; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • LoGerfo A; Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
  • Caligo MA; Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
  • Dal Canto F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Pasquinelli G; Department of Experimental, Biotechnology and Methods in Laboratory Medicine, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
  • Bonadio AG; Subcellular Nephro-Vascular Diagnostic Program, Pathology Unit, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Moriconi D; Department of Translational Research on New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
  • Siciliano G; Department of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Pisa, Italy.
  • Mancuso M; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
J Neuromuscul Dis ; 10(1): 119-123, 2023.
Article en En | MEDLINE | ID: mdl-36404555
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome MELAS / Enfermedades Mitocondriales Límite: Female / Humans Idioma: En Revista: J Neuromuscul Dis Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome MELAS / Enfermedades Mitocondriales Límite: Female / Humans Idioma: En Revista: J Neuromuscul Dis Año: 2023 Tipo del documento: Article País de afiliación: Italia