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Article

Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts.

International journal of molecular sciences - 8 Sept 2022

Bayonés Lucas, Guerra-Fernández María José, Hinostroza Fernando, Báez-Matus Ximena, Vásquez-Navarrete Jacqueline, Gallo Luciana I, Parra Sergio, Martínez Agustín D, González-Jamett Arlek, Marengo Fernando D, Cárdenas Ana M

Abstract excerpt

Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissue. Among these mutations, the variants p.A618T and p.S619L lead to a gain of function and cause a severe neonatal phenotype. By using total internal reflection fluorescence microscopy (TIRFM) in immortalized human...

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Identifiers

PMID: 36142275
DOI: 10.3390/ijms231810363
PMCID: PMC9499313

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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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Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts.PMID 36142275Read ↗

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