Abstract
AbstractNuclear envelope (NE) is a term of the structure surrounding each nucleus of the cell and has many important functions including maintaining chromatin organization. Mutations in the genes encoding NE proteins are known to cause several diseases including myopathies. The age at onset and clinical features of NE myopathy are quite variable, but careful management of associated cardiac symptoms including lethal arrhythmia and cardiomyopathy is critical for the prognosis. In this review, clinical characteristics of NE myopathies together with recent advances of their management is described.
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