Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5534936 | Seminars in Cell & Developmental Biology | 2017 | 43 Pages |
Abstract
The present review will summarize the key genetic, histopathological and clinical features of specific congenital myopathies, and outline therapies already available or currently being developed in the context of known pathogenic mechanisms. The relevance of newly discovered molecular mechanisms and novel gene editing strategies for future therapy development will be discussed.
Keywords
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Authors
Heinz Jungbluth, Julien Ochala, Susan Treves, Mathias Gautel,