Congenital myopathies: Clinical phenotypes and new diagnostic tools

D. Cassandrini, R. Trovato, A. Rubegni, S. Lenzi, C. Fiorillo, J. Baldacci, C. Minetti, G. Astrea, C. Bruno, F.M. Santorelli, A. Berardinelli, E.S. Bertini, G. Comi, A. D'Amico, M.A. Donati, M.T. Dotti, F. Fattori, M. Grandis, L. Maggi, F. MagriM.A. Maioli, A. Malandrini, F. Mari, R. Massa, E. Mercuri, L. Merlini, M. Moggio, M. Mora, L.O. Morandi, O. Musumeci, V. Nigro, M. Pane, E. Pegoraro, E.M. Pennisi, L. Peverelli, G. Ricci, C. Rodolico, L. Ruggiero, M. Sacchini, L. Santoro, M. Savarese, G. Siciliano, A. Simonati, P. Tonin, A. Toscano

Research output: Contribution to journalArticle

Original languageEnglish
JournalItalian Journal of Pediatrics
Volume43
Issue number1
DOIs
Publication statusPublished - 2017

Keywords

  • Article
  • cap myopathy
  • central core disease
  • centronuclear myopathy
  • clinical feature
  • congenital fiber type disproportion myopathy
  • congenital myopathy
  • cost effectiveness analysis
  • diagnostic approach route
  • disease classification
  • genotype
  • histopathology
  • multiminicore disease
  • muscle biopsy
  • myopathy
  • myosin storage myopathy
  • nemaline myopathy
  • next generation sequencing
  • nuclear magnetic resonance imaging
  • phenotype
  • whole exome sequencing
  • zebra body myopathy

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