A novel <i>DNM2</i> variant associated with centronuclear myopathy: a case report.

ABSTRACT: DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a proline-rich domain. Monoallelic variants in DNM2 are associated with Charcot-Marie-Tooth disease and a rare form of congenital centronuclear myopathy (CNM). Several DNM2 variants have been reported in patients with CNM, typically presenting with mild and slowly progressive symptoms. We report the case of a 47-year-old man with DNM2-related myopathy, who presented with progressive muscle weakness starting at the age of 40 years. Clinical exome sequencing rev

SUBMITTER: Rimoldi M 

PROVIDER: S-EPMC12010121 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature