Article
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Journal of neurology - 1 Jul 2015
Fattori Fabiana, Maggi Lorenzo, Bruno Claudio, Cassandrini Denise, Codemo Valentina, Catteruccia Michela, Tasca Giorgio, Berardinelli Angela, Magri Francesca, Pane Marika, Rubegni Anna, Santoro Lucio, Ruggiero Lucia, Fiorini Patrizio, Pini Antonella, Mongini Tiziana, Messina Sonia, Brisca Giacomo, Colombo Irene, Astrea Guja, Fiorillo Chiara, Bragato Cinzia, Moroni Isabella, Pegoraro Elena, D'Apice Maria Rosaria, Alfei Enrico, Mora Marina, Morandi Lucia, Donati Alice, Evilä Anni, Vihola Anna, Udd Bjarne, Bernansconi Pia, Mercuri Eugenio, Santorelli Filippo Maria, Bertini Enrico, D'Amico Adele
Abstract excerpt
Centronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. To date, mutation in 7 different genes has been reported to cause CNMs but 30 % of cases still remain genetically undefined. Genetic investigations are often expensive and time consuming. Clinical and morphological clues are needed to facilitate genetic tests and to choose the best approach for genetic...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Child
- Child, Preschool
- Cohort Studies