Update on Congenital Myopathies in Adulthood

doi:10.3390/ijms21103694

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Update on Congenital Myopathies in Adulthood

24 May 2020

Abstract excerpt

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic...

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PMID: 32456280
DOI: 10.3390/ijms21103694

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