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A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.
Gemelli, Chiara; Prada, Valeria; Fiorillo, Chiara; Fabbri, Sabrina; Maggi, Lorenzo; Geroldi, Alessandro; Gibertini, Sara; Mandich, Paola; Trevisan, Lucia; Fossa, Paola; Tagliafico, Alberto Stefano; Schenone, Angelo; Grandis, Marina.
Afiliação
  • Gemelli C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy. Electronic address: s2895905@studenti.unige.it.
  • Prada V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy.
  • Fiorillo C; Department of Neuroscience, Paediatric Neurology and Neuromuscular Disorders, Istituto Giannina Gaslini, University of Genova, Via Gerolamo Gaslini, 5, 16147 Genova, Italy.
  • Fabbri S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy.
  • Maggi L; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133 Milano, Italy.
  • Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy.
  • Gibertini S; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133 Milano, Italy.
  • Mandich P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132 Genoa, Italy.
  • Trevisan L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132 Genoa, Italy.
  • Fossa P; Department of Pharmacy, Section of Medicinal Chemistry, School of Medical and Pharmaceutical Sciences, University of Genova, Viale Benedetto XV 3, 16132 Genova, Italy.
  • Tagliafico AS; Department of Health Sciences (DISSAL), Radiology Section, University of Genova, Via Pastore, 1-16132 Genova, Italy; Emergency Radiology, Policlinico San Martino, Largo Rosanna Benzi, 10-16132 Genova, Italy.
  • Schenone A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy; Ospedale Policlinico San Martino IRCCS-Neurological Unit, Largo R. Benzi 10, 16132 Genoa, Italy.
  • Grandis M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy; Ospedale Policlinico San Martino IRCCS-Neurological Unit, Largo R. Benzi 10, 16132 Genoa, Italy. Electronic address: mgrandis@n
J Neurol Sci ; 398: 75-78, 2019 Mar 15.
Article em En | MEDLINE | ID: mdl-30685713
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Actinas / Miopatias Congênitas Estruturais / Miopatias Distais / Filaminas / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Actinas / Miopatias Congênitas Estruturais / Miopatias Distais / Filaminas / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article