Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
This large, real-world cohort provides a comprehensive overview of the genetic distribution of CMYO and CMD in routine practice. Our findings offer a robust framework to guide diagnostic strategies, inform variant interpretation, and support clinical decision making in the genomic era.
Authors
- Rahul Phadke (ORCID: https://orcid.org/0000-0001-9699-2718)
- Colin Walsh (ORCID: https://orcid.org/0000-0003-4694-2805)
- James G. Mueller
- R. Mein
- Francesco Saverio Tedesco (ORCID: https://orcid.org/0000-0001-5321-7682)
- Gianpaolo Cicala
- Francesco Muntoni
- Mariacristina Scoto
- Jo Mccauley
- Giovanni Baranello
- Adnan Y. Manzur
- Stephanie Ann Robb
- Anna Sarkozy
- Pinki Munot
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Guy's Hospital (GB)
- Great Ormond Street Hospital (GB)
- The Francis Crick Institute (GB)
- MRC Laboratory for Molecular Cell Biology (GB)
- Genomics England (GB)
- University College London (GB)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-03-12
- DOI
- https://doi.org/10.1212/nxg.0000000000200354
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00