Article
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.
Human molecular genetics - 15 Aug 2015
Rokach Ori, Sekulic-Jablanovic Marijana, Voermans Nicol, Wilmshurst Jo, Pillay Komala, Heytens Luc, Zhou Haiyan, Muntoni Francesco, Gautel Mathias, Nevo Yoram, Mitrani-Rosenbaum Stella, Attali Ruben, Finotti Alessia, Gambari Roberto, Mosca Barbara, Jungbluth Heinz, Zorzato Francesco, Treves Susan
Abstract excerpt
Congenital myopathies are genetically and clinically heterogeneous conditions causing severe muscle weakness, and mutations in the ryanodine receptor gene (RYR1) represent the most frequent cause of these conditions. A common feature of diseases caused by recessive RYR1 mutations is a decrease of ryanodine receptor 1 protein content in muscle. The aim of the present investigation was to gain mechanistic insight...
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