Articles with "dnm2 related" as a keyword



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Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy

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Published in 2022 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000200027

Abstract: Background and Objectives Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range… read more here.

Keywords: pathogenic variants; centronuclear myopathy; dnm2 related; related cnm ... See more keywords