Asymptomatic HyperCKemia in the Pediatric Population
NGS, as the primary diagnostic tool for investigating hyperCKemia in the pediatric population, yielded a higher diagnostic rate. However, muscle biopsies are necessary to define variants of uncertain pathogenicity and aid in identifying inflammatory myopathies. EMG and MRI may play a role in hyperCKemia characterization, guiding the decision to perform muscle biopsy. The primary limitation of this study was that not all ancillary tests were performed in all recruited patients owing to ethical restrictions, which lowered the power of the predictive analysis.
Authors
- Teresa Sevilla (ORCID: https://orcid.org/0000-0003-4716-2667)
- Inmaculada Pitarch Castellano (ORCID: https://orcid.org/0000-0002-3864-7374)
- Nuria Muelas (ORCID: https://orcid.org/0000-0002-2349-7481)
- Inmaculada Azorı́n (ORCID: https://orcid.org/0009-0009-6169-3844)
- Pilar Martí (ORCID: https://orcid.org/0000-0002-1022-9314)
- Juan J. Vílchez (ORCID: https://orcid.org/0000-0002-0532-2872)
- Roger Vílchez
- Lorena Fores (ORCID: https://orcid.org/0009-0009-9824-5076)
Institutions
- Centro de Investigación Biomédica en Red (ES)
Publication Details
- Journal
- Neurology
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1212/wnl.0000000000210116
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.38