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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

Abstract 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 ambiguo...

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Principais autores: Stefan Nicolau, Aneesha Dasgupta, Surendra Dasari, M. Cristine Charlesworth, Kenneth L. Johnson, Akhilesh Pandey, Jason D. Doles, Margherita Milone
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2023-01-01
Serier:Acta Neuropathologica Communications
Fag:
Nemaline myopathy
NEB
ACTA1
Histology
Proteomics
Transcriptomics
Online adgang:https://doi.org/10.1186/s40478-023-01518-9
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