About
Contact & Profiles
A5071486612
Research Areas
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Genomics and Rare Diseases
- Cellular transport and secretion
- Cardiomyopathy and Myosin Studies
Charles University
2022-2023
Abstract Background FLNC is one of the few genes associated with all types cardiomyopathies, but it also underlies neuromuscular phenotype. The combination concomitant and cardiac involvement not often observed in filaminopathies impact this on disease prognosis has hitherto been analyzed. Results Here we provide a detailed clinical, genetic, structural prediction analysis distinct -associated phenotypes based twelve pediatric cases. They include early-onset restrictive cardiomyopathy (RCM)...
10.1186/s13023-022-02477-5
article
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cc-by
Orphanet Journal of Rare Diseases
2022-09-14
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