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Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.

Human mutation - 1 Feb 2022

Fujise Kenshiro, Okubo Mariko, Abe Tadashi, Yamada Hiroshi, Takei Kohji, Nishino Ichizo, Takeda Tetsuya, Noguchi Satoru

Abstract excerpt

A centronuclear myopathy (CNM) is a group of inherited congenital diseases showing clinically progressive muscle weakness associated with the presence of centralized myonuclei, diagnosed by genetic testing and muscle biopsy. The gene encoding dynamin 2, DNM2, has been identified as a causative gene for an autosomal dominant form of CNM. However, the information of a DNM2 variant alone is not always sufficient to...

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PMID: 34837441
DOI: 10.1002/humu.24307

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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