Update on Congenital Myopathies in Adulthood.
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ABSTRACT:
SUBMITTER: Papadimas GK
PROVIDER: S-EPMC7279481 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
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Update on Congenital Myopathies in Adulthood.
Papadimas George Konstantinos GK Xirou Sophia S Kararizou Evangelia E Papadopoulos Constantinos C
International journal of molecular sciences 20200524 10
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 spectrum and contributed to a more genetically based approach for their classification. ...[more]
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