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Article

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

Scientific reports - 4 Jul 2017

González-Jamett Arlek M, Baez-Matus Ximena, Olivares María José, Hinostroza Fernando, Guerra-Fernández Maria José, Vasquez-Navarrete Jacqueline, Bui Mai Thao, Guicheney Pascale, Romero Norma Beatriz, Bevilacqua Jorge A, Bitoun Marc, Caviedes Pablo, Cárdenas Ana M

Abstract excerpt

Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy characterized by progressive weakness and atrophy of skeletal muscles. However, the muscle-specific roles of dynamin-2 affected by these mutations remain elusive. Here we...

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Identifiers

PMID: 28676641
DOI: 10.1038/s41598-017-04418-w
PMCID: PMC5496902

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