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Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Verrigni, D; Diodato, D; Di Nottia, M; Torraco, A; Bellacchio, E; Rizza, T; Tozzi, G; Verardo, M; Piemonte, F; Tasca, G; D'Amico, A; Bertini, E; Carrozzo, R.
Affiliation
  • Verrigni D; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Diodato D; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Bellacchio E; Research Laboratories, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.
  • Rizza T; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Tozzi G; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Verardo M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Piemonte F; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Tasca G; Institute of Neurology, Policlinico 'A. Gemelli' Foundation University Hospital, Rome, Italy.
  • D'Amico A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Bertini E; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
  • Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Rome, Italy.
Clin Genet ; 91(6): 918-923, 2017 Jun.
Article in En | MEDLINE | ID: mdl-27891585
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Cardiomyopathy, Hypertrophic / Mitochondrial Diseases / Lysine-tRNA Ligase Type of study: Prognostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Clin Genet Year: 2017 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Cardiomyopathy, Hypertrophic / Mitochondrial Diseases / Lysine-tRNA Ligase Type of study: Prognostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Clin Genet Year: 2017 Document type: Article