Cargando…
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-...
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: | |
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 |
Ejemplares similares
-
Clinical, morphological and genetic studies
in a cohort of 21 patients with myofibrillar
myopathy
por: Vattemi, G., et al.
Publicado: (2011) -
Non-Hematologic Toxicity of Bortezomib in Multiple Myeloma: The Neuromuscular and Cardiovascular Adverse Effects
por: Pancheri, Elia, et al.
Publicado: (2020) -
Autophagy, Inflammation and Innate Immunity in Inflammatory Myopathies
por: Cappelletti, Cristina, et al.
Publicado: (2014) -
Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis
por: Vattemi, Gaetano, et al.
Publicado: (2014) -
Acetylcholine Receptor-Antibody-Positive Myasthenia Gravis Presenting with Early Atrophy and Nonfluctuating Weakness of Proximal Limb Muscles
por: Pancheri, Elia, et al.
Publicado: (2020)