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Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
Torraco, Alessandra; Maroofian, Reza; Rötig, Agnès; Bertini, Enrico; Ghezzi, Daniele; Carrozzo, Rosalba; Diodato, Daria.
Affiliation
  • Torraco A; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù, Children's Hospital, IRCCS, Rome, Italy.
  • Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
  • Rötig A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Bertini E; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù, Children's Hospital, IRCCS, Rome, Italy.
  • Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Carrozzo R; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Diodato D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù, Children's Hospital, IRCCS, Rome, Italy.
Hum Mutat ; 43(1): 99-100, 2022 01.
Article in En | MEDLINE | ID: mdl-34888984
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Full text: 1 Database: MEDLINE Main subject: Leigh Disease Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy
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Full text: 1 Database: MEDLINE Main subject: Leigh Disease Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy