Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

BACKGROUND: FLNC is one of the few genes associated with all types of cardiomyopathies, but it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular and cardiac involvement is not often observed in filaminopathies and the impact of this on the disease prognosis has hit...

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Detalles Bibliográficos
Autores principales: Muravyev, A., Vershinina, T., Tesner, P., Sjoberg, G., Fomicheva, Yu., Čajbiková, N. Novák, Kozyreva, A., Zhuk, S., Mamaeva, E., Tarnovskaya, S., Jornholt, J., Sokolnikova, P., Pervunina, T., Vasichkina, E., Sejersen, T., Kostareva, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9476594/
https://www.ncbi.nlm.nih.gov/pubmed/36104822
http://dx.doi.org/10.1186/s13023-022-02477-5

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