Congenital myopathies: clinical phenotypes and new diagnostic tools

• Main Authors: Denise Cassandrini (Author), Rosanna Trovato (Author), Anna Rubegni (Author), Sara Lenzi (Author), Chiara Fiorillo (Author), Jacopo Baldacci (Author), Carlo Minetti (Author), Guja Astrea (Author), Claudio Bruno (Author), Filippo M. Santorelli (Author), the Italian Network on Congenital Myopathies (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 see...