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Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
Astrea, Guja; Petrucci, Antonio; Cassandrini, Denise; Savarese, Marco; Trovato, Rosanna; Lispi, Ludovico; Rubegni, Anna; Giacanelli, Manlio; Massa, Roberto; Nigro, Vincenzo; Santorelli, Filippo M.
Affiliation
  • Astrea G; Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
  • Petrucci A; Center for Neuromuscular and Neurological Rare Diseases, S. Camillo-Forlanini Hospital, Rome, Italy.
  • Cassandrini D; Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
  • Savarese M; Department of Biochemistry, Biophysics and General Pathology (Medical Genetics), Second University of Naples, Naples, Italy.
  • Trovato R; Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
  • Lispi L; Center for Neuromuscular and Neurological Rare Diseases, S. Camillo-Forlanini Hospital, Rome, Italy.
  • Rubegni A; Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
  • Giacanelli M; Center for Neuromuscular and Neurological Rare Diseases, S. Camillo-Forlanini Hospital, Rome, Italy.
  • Massa R; Department of Systems Medicine (Neurology), University of Tor Vergata, Rome, Italy.
  • Nigro V; Department of Biochemistry, Biophysics and General Pathology (Medical Genetics), Second University of Naples, Naples, Italy.
  • Santorelli FM; Telethon Institute of Genetics and Medicine, Naples, Italy.
BMC Med Genet ; 17: 25, 2016 Mar 22.
Article in En | MEDLINE | ID: mdl-27005958
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Full text: 1 Database: MEDLINE Main subject: Myosin Heavy Chains / Cardiac Myosins / Distal Myopathies / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Italy
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Full text: 1 Database: MEDLINE Main subject: Myosin Heavy Chains / Cardiac Myosins / Distal Myopathies / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Italy