Cargando…
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning
PURPOSE: Congenital myopathies are a heterogeneous group of diseases affecting the skeletal muscles and characterized by high clinical, genetic, and histological variability. Magnetic Resonance (MR) is a valuable tool for the assessment of involved muscles (i.e., fatty replacement and oedema) and di...
Autores principales: | Lupi, Amalia, Spolaor, Simone, Favero, Alessandro, Bello, Luca, Stramare, Roberto, Pegoraro, Elena, Nobile, Marco Salvatore |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10166478/ https://www.ncbi.nlm.nih.gov/pubmed/37155641 http://dx.doi.org/10.1371/journal.pone.0285422 |
Ejemplares similares
-
Muscle MR Imaging in Tubular Aggregate Myopathy
por: Beltrame, Valeria, et al.
Publicado: (2014) -
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
por: Tasca, Giorgio, et al.
Publicado: (2015) -
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1
por: Okuma, Hidehiko, et al.
Publicado: (2016) -
Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes
por: Sallinger, Matthias, et al.
Publicado: (2020) -
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
por: Cordero-Sanchez, Celia, et al.
Publicado: (2019)