Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients

Myofibrillar myopathies (MFM) are heterogeneous hereditary muscle diseases with characteristic myopathological features of Z-disk dissolution and aggregates of its degradation products. The onset and progression of the disease are variable, with an elusive genetic background, and around half of the...

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Detalles Bibliográficos
Autores principales: Potulska-Chromik, Anna, Jędrzejowska, Maria, Gos, Monika, Rosiak, Edyta, Kierdaszuk, Biruta, Maruszak, Aleksandra, Opuchlik, Andrzej, Zekanowski, Cezary, Fichna, Jakub P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956316/
https://www.ncbi.nlm.nih.gov/pubmed/33652732
http://dx.doi.org/10.3390/jcm10050914

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956316/
https://www.ncbi.nlm.nih.gov/pubmed/33652732
http://dx.doi.org/10.3390/jcm10050914

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