Congenital myopathies: Clinical phenotypes and new diagnostic tools

Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, Angela Berardinelli, Enrico S. Bertini, Giacomo Comi, Adele D'Amico, Maria Alice Donati, Maria Teresa Dotti, Fabiana Fattori, Marina Grandis, Lorenzo Maggi, Francesca MagriMaria A. Maioli, Alessandro Malandrini, Francesco Mari, Roberto Massa, Eugenio Mercuri, Luciano Merlini, Maurizio Moggio, Marina Mora, Lucia O. Morandi, Olimpia Musumeci, Vincenzo Nigro, Marika Pane, Elena Pegoraro, Elena M. Pennisi, Lorenzo Peverelli, Giulia Ricci, Carmelo Rodolico, Lucia Ruggiero, Michele Sacchini, Lucio Santoro, Marco Savarese, Gabriele Siciliano, Alessandro Simonati, Paola Tonin, Antonio Toscano

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

Original languageEnglish
Article number101
JournalItalian Journal of Pediatrics
Volume43
Issue number1
DOIs
Publication statusPublished - Nov 15 2017

Keywords

  • Congenital myopathy
  • Muscle biopsy
  • Muscle MRI
  • Next generation sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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