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A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNAVariant: A Case Report

Autor: 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

Publikováno v: Journal of Neuromuscular Diseases; January 2023, Vol. 10 Issue: 1 p119-123, 5p

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.

Autor: Di Nottia M; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rizza T; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Baruffini E; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Nesti C; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy., Torraco A; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Diodato D; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Dal Canto F; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy., Gilea AI; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Zoccola M; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Bertini E; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Santorelli FM; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy., Goffrini P; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Carrozzo R; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Aug 20; Vol. 15, pp. 1437959. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024).