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Article

Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

25 Jan 2023

Abstract excerpt

Background and Objectives Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well as respiratory and bulbar...

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PMID: 36714460
DOI: 10.1212/nxg.0000000000200056

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