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Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.

Human molecular genetics - 1 Oct 2015

Chin Yu-Han, Lee Albert, Kan Hung-Wei, Laiman Jessica, Chuang Mei-Chun, Hsieh Sung-Tsang, Liu Ya-Wen

Abstract excerpt

Skeletal muscle requires adequate membrane trafficking and remodeling to maintain its normal structure and functions. Consequently, many human myopathies are caused by mutations in membrane trafficking machinery. The large GTPase dynamin-2 (Dyn2) is best known for catalyzing membrane fission during clathrin-mediated endocytosis (CME), which is critical for cell signaling and survival. Despite its ubiquitous...

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PMID: 26199319
DOI: 10.1093/hmg/ddv285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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