Article

Imaging-based evaluation of pathogenicity by novel <i>DNM2 variants</i> associated with centronuclear myopathy

2021-03-02

Abstract excerpt

<h4>ABSTRACT</h4> Centronuclear myopathy (CNM) is characterized clinically by muscle weakness and pathologically by the presence of centralized nuclei and disarrangement of T-tubules in muscle fibers. DNM2 which encodes a large GTPase dynamin 2 have been identified as a causative gene for CNM. Nevertheless, the identification of DNM2 variants may not always lead to the definitive diagnosis as their pathogenicit...

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Literature Corpus work: 09a219b4-0df6-5316-87db-b6b463c4a916
DOI: 10.1101/2021.03.01.433478

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