Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Abstract
Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal muscle. We collected pulmonary function testing (PFT) data from a large retrospective cohort followed at Centers collaborating in the Italian DMD Network. Furthermore, we analyzed PFT associations with different DMD mutation types, and with genetic variants in SPP1, LTBP4, CD40, and ACTN3, known to modify skeletal muscle weakness in DMD. Genetic association findings were independently validated in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG‐DNHS).
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Apr 28, 2020
- Source ID
- 10.1002/acn3.51046
Entities
People
- Adele D’amico
- Andrea Barp
- Andrea Vianello
- Angela Berardinelli
- Antonella Pini
- Aurora Fusto
- Beatrice Merlo
- Cinrg‐dnhs Investigators
- Claudio Bruno
- Craig M. McDonald
- Daniele Sabbatini
- Elena Pegoraro
- Elisa De Mattia
- Emilio Albamonte
- Enrico Bertini
- Eric Hoffman
- Eugenio Mercuri
- Fabrizio Rao
- Federica Trucco
- Francesca Magri
- Giacomo P Comi
- Gian Luca Vita
- Giovanni Baranello
- Grazia D’angelo
- Guja Astrea
- Heather Gordish‐dressman
- Lauren Morgenroth
- Luca Bello
- Luisa Politano
- Marika Pane
- Marina Pedemonte
- Matteo Villa
- Paola Tacchetti
- Riccardo Masson
- Sandra Gandossini
- Sara Vianello
- Sonia Messina
- Stefano C. Previtali
- Tiziana Mongini
- Valentina Lanzillotta
- Valeria A. Sansone
Organizations
- Bambino Gesù Hospital
- Binghamton University
- Carlo Besta Neurological Institute
- Catholic University of the Sacred Heart
- Children's National Hospital
- Fondazione Cariparo
- Istituto Giannina Gaslini
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- National Institute on Disability, Independent Living, and Rehabilitation Research
- National Institutes of Health
- Parent Project Muscular Dystrophy
- Telethon Foundation
- United States Department of Defense
- University College London
- University of California, Davis
- University of Messina
- University of Milan
- University of Padua
- University of Turin