Congenital myopathies: clinical phenotypes and new diagnostic tools

Sara Lenzi, Denise Cassandrini, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M Santorelli, Italian Network on Congenital Myopathies

Research output: Contribution to journalReview articlepeer-review


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
Pages (from-to)101
JournalItalian Journal of Pediatrics
Issue number1
Publication statusPublished - Nov 15 2017


  • Journal Article
  • Review


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