Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes

BACKGROUND: Myofibrillar myopathies (MFM) are a subgroup of protein aggregate myopathies (PAM) characterized by a common histological picture of myofibrillar dissolution, Z-disk disintegration, and accumulation of degradation products into inclusions. Mutations in genes encoding components of the Z-...

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Detalles Bibliográficos
Autores principales: Machnicki, Marcin M., Guglielmi, Valeria, Pancheri, Elia, Gualandi, Francesca, Verriello, Lorenzo, Pruszczyk, Katarzyna, Kosinska, Joanna, Sangalli, Antonella, Rydzanicz, Malgorzata, Romanelli, Maria Grazia, Neri, Marcella, Ploski, Rafal, Tonin, Paola, Tomelleri, Giuliano, Stoklosa, Tomasz, Vattemi, Gaetano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654353/
https://www.ncbi.nlm.nih.gov/pubmed/33170376
http://dx.doi.org/10.1007/s10072-020-04876-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654353/
https://www.ncbi.nlm.nih.gov/pubmed/33170376
http://dx.doi.org/10.1007/s10072-020-04876-7

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