Article

Gain-of-function dynamin-2 mutations linked to centronuclear myopathy impair Ca <sup>2+</sup> -induced exocytosis in human myoblasts

2022-09-03

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 gain of function and cause a severe neonatal phenotype. By using total internal reflection fluorescence microscopy (TIRFM) in immortalized human myobl...

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Literature Corpus work: a23538c8-1cbe-5f05-86d2-161e2aba3c1f
DOI: 10.1101/2022.08.31.506089

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