Abstract：
: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. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Papadimas GK,Xirou S,Kararizou E,Papadopoulos Cdoi
10.3390/ijms21103694subject
Has Abstractpub_date
2020-05-24 00:00:00issue
10issn
1422-0067pii
ijms21103694journal_volume
21pub_type
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