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SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
Ardissone, Anna; Bragato, Cinzia; Blasevich, Flavia; Maccagnano, Elio; Salerno, Franco; Gandioli, Claudia; Morandi, Lucia; Mora, Marina; Moroni, Isabella.
Affiliation
  • Ardissone A; Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy. anna.ardissone@istituto-besta.it.
  • Bragato C; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Blasevich F; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Maccagnano E; Neuroradiology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Salerno F; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Gandioli C; Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Morandi L; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Mora M; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
  • Moroni I; Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
Eur J Pediatr ; 175(8): 1113-8, 2016 Aug.
Article in En | MEDLINE | ID: mdl-26780752
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Selenoproteins / Muscle Proteins / Mutation / Neck Muscles Type of study: Diagnostic_studies / Etiology_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Pediatr Year: 2016 Document type: Article Affiliation country: Italia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Selenoproteins / Muscle Proteins / Mutation / Neck Muscles Type of study: Diagnostic_studies / Etiology_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Pediatr Year: 2016 Document type: Article Affiliation country: Italia