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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Bibliographic Details

Published in:	Acta Neuropathologica Communications
Main Authors:	Stefan Nicolau, Aneesha Dasgupta, Surendra Dasari, M. Cristine Charlesworth, Kenneth L. Johnson, Akhilesh Pandey, Jason D. Doles, Margherita Milone
Format:	Article
Language:	English
Published:	BMC 2023-01-01
Subjects:	Nemaline myopathy NEB ACTA1 Histology Proteomics Transcriptomics
Online Access:	https://doi.org/10.1186/s40478-023-01518-9