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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders is therefore crucial when the diagnosis remains ambiguous after...

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Detalles Bibliográficos
Autores principales: Nicolau, Stefan, Dasgupta, Aneesha, Dasari, Surendra, Charlesworth, M. Cristine, Johnson, Kenneth L., Pandey, Akhilesh, Doles, Jason D., Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878979/
https://www.ncbi.nlm.nih.gov/pubmed/36703211
http://dx.doi.org/10.1186/s40478-023-01518-9