Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillar and Distal Myopathies
The Italian cohort of patients with MFM and DM recapitulates the phenotypic heterogeneity and the partial overlap between the 2 groups. However, in relative contrast to the encountered phenotypic variability, only 5 genes accounted for most of the molecular diagnoses. Specific genetic entities are associated with significantly increased risk of developing cardiorespiratory complications or loss of ambulation, which has relevant prognostic implications.
Authors
- Mauro Monforte (ORCID: https://orcid.org/0000-0002-4327-6969)
- Roberta Bencivenga
- Giulia Greco (ORCID: https://orcid.org/0000-0001-8174-9977)
- Roberto Massa (ORCID: https://orcid.org/0000-0001-7523-6956)
- Gabriele Siciliano (ORCID: https://orcid.org/0000-0002-6142-2384)
- Stefano Carlo Previtali (ORCID: https://orcid.org/0000-0003-2546-4357)
- Matteo Garibaldi (ORCID: https://orcid.org/0000-0003-1830-2886)
- Lucia Ruggiero (ORCID: https://orcid.org/0000-0002-7756-9567)
- Silvia Bonanno (ORCID: https://orcid.org/0000-0002-8823-6821)
- Massimiliano Mirabella (ORCID: https://orcid.org/0000-0002-7783-114X)
- Tiziana Mongini (ORCID: https://orcid.org/0000-0003-4061-4261)
- Serenella Servidei (ORCID: https://orcid.org/0000-0001-8478-2799)
- Massimiliano Filosto (ORCID: https://orcid.org/0000-0002-2852-7512)
- Sara Bortolani (ORCID: https://orcid.org/0000-0002-6472-0563)
- Giacomo P. Comi (ORCID: https://orcid.org/0000-0002-1383-5248)
- Corrado Italo Angelini (ORCID: https://orcid.org/0000-0002-9554-8794)
- Francesca Magri (ORCID: https://orcid.org/0000-0002-6365-7291)
- Eleonora Torchia (ORCID: https://orcid.org/0000-0003-1965-6483)
- Sabrina Ravaglia (ORCID: https://orcid.org/0000-0001-8749-3706)
- Marta Cheli (ORCID: https://orcid.org/0000-0002-1829-6917)
- Antonio Petrucci (ORCID: https://orcid.org/0000-0001-7950-4970)
- Guido Primiano (ORCID: https://orcid.org/0000-0001-7616-7008)
- Gaetano Vattemi (ORCID: https://orcid.org/0000-0003-3412-8339)
- Marina Grandis (ORCID: https://orcid.org/0000-0001-6637-4425)
- Paola Tonin (ORCID: https://orcid.org/0000-0002-6605-3004)
- Matteo Lucchini (ORCID: https://orcid.org/0000-0002-0447-2297)
- Maria Lucia Valentino (ORCID: https://orcid.org/0000-0001-5323-0115)
- Guja Astrea (ORCID: https://orcid.org/0000-0001-8588-0323)
- Carmelo Rodolico (ORCID: https://orcid.org/0000-0003-2543-6356)
- Daniele Velardo (ORCID: https://orcid.org/0000-0003-1837-2788)
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Rocco Liguori (ORCID: https://orcid.org/0000-0002-1815-1013)
- Alessandro Malandrini (ORCID: https://orcid.org/0000-0002-4068-8714)
- Yuri Falzone (ORCID: https://orcid.org/0000-0003-3233-1907)
- Anna Rubegni (ORCID: https://orcid.org/0000-0002-0484-3799)
- Jordi Díaz‐Manera (ORCID: https://orcid.org/0000-0003-2941-7988)
- Chiara Gemelli (ORCID: https://orcid.org/0000-0003-1911-2726)
- Lorenzo Maggi (ORCID: https://orcid.org/0000-0002-0932-5173)
- Giovanni Antonini (ORCID: https://orcid.org/0000-0002-7519-7739)
- Diego Lopergolo (ORCID: https://orcid.org/0000-0003-2256-0482)
- Giulia Ricci (ORCID: https://orcid.org/0000-0002-6612-5995)
- Alessandra Ruggieri (ORCID: https://orcid.org/0000-0002-2777-6226)
- Marco Savarese (ORCID: https://orcid.org/0000-0002-2591-244X)
- António Toscano (ORCID: https://orcid.org/0000-0002-3995-4827)
- Enzo Ricci (ORCID: https://orcid.org/0000-0003-3092-3597)
- Alessia Pugliese (ORCID: https://orcid.org/0009-0002-9303-9299)
- Cristina Sancricca
- Alessandra Ariatti
Institutions
- Agostino Gemelli University Polyclinic (IT)
Publication Details
- Journal
- Neurology
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1212/wnl.0000000000209697
- Citations
- 10
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 4.02