Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period

Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, Juliane Mueller, Stephanie Ann Robb, Adnan Y. Manzur, Pinki Munot, Giovanni Baranello, Mariacristina Scoto, Francesco Saverio Tedesco, Rachael A. Mein, Cheryl Walsh, Francesco Muntoni, Anna Sarkozy

Open source

DOI: 10.1212/nxg.0000000000200354
Published: 2026-04
Container: Neurology Genetics
Publisher: Ovid Technologies (Wolters Kluwer Health)
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1212/nxg.0000000000200354,
  title = {Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period},
  author = {Gianpaolo Cicala and Jo Mccauley and Rahul Phadke and Juliane Mueller and Stephanie Ann Robb and Adnan Y. Manzur and Pinki Munot and Giovanni Baranello and Mariacristina Scoto and Francesco Saverio Tedesco and Rachael A. Mein and Cheryl Walsh and Francesco Muntoni and Anna Sarkozy},
  year = {2026},
  journal = {Neurology Genetics},
  doi = {10.1212/nxg.0000000000200354},
  url = {https://doi.org/10.1212/nxg.0000000000200354}
}

RIS

TY  - JOUR
TI  - Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
AU  - Gianpaolo Cicala
AU  - Jo Mccauley
AU  - Rahul Phadke
AU  - Juliane Mueller
AU  - Stephanie Ann Robb
AU  - Adnan Y. Manzur
AU  - Pinki Munot
AU  - Giovanni Baranello
AU  - Mariacristina Scoto
AU  - Francesco Saverio Tedesco
AU  - Rachael A. Mein
AU  - Cheryl Walsh
AU  - Francesco Muntoni
AU  - Anna Sarkozy
PY  - 2026
JO  - Neurology Genetics
DO  - 10.1212/nxg.0000000000200354
UR  - https://doi.org/10.1212/nxg.0000000000200354
ER  -

APA

Cicala, G., Mccauley, J., Phadke, R., Mueller, J., Robb, S. A., Manzur, A. Y., Munot, P., Baranello, G., Scoto, M., Tedesco, F. S., Mein, R. A., Walsh, C., Muntoni, F., & Sarkozy, A. (2026). Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period. Neurology Genetics. https://doi.org/10.1212/nxg.0000000000200354

Source records

crossref · retrieved 2026-09-26T17:25:02.767Z