| Autor: |
Christoph, Bachmann, Martina, Franchini, Luuk R, Van den Bersselaar, Nick, Kruijt, Nicol C, Voermans, Karlijn, Bouman, Erik-Jan, Kamsteeg, Karl Christian, Knop, Lucia, Ruggiero, Lucio, Santoro, Yoram, Nevo, Jo, Wilmshurst, John, Vissing, Michael, Sinnreich, Daniele, Zorzato, Francesco, Muntoni, Heinz, Jungbluth, Francesco, Zorzato, Susan, Treves |
| Rok vydání: |
2022 |
| Zdroj: |
Brain communications. 4(5) |
| ISSN: |
2632-1297 |
| Popis: |
Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The most commonly mutated genes encode proteins involved in skeletal muscle excitation-contraction coupling, calcium regulation, sarcomeric proteins and thin-thick filament interaction. However, mutations in genes encoding proteins involved in other physiological functions (for example mutations in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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