Article
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
International journal of molecular sciences - 14 Jul 2023
Cannone Elena, Guglielmi Valeria, Marchetto Giulia, Tobia Chiara, Gnutti Barbara, Cisterna Barbara, Tonin Paola, Barbon Alessandro, Vattemi Gaetano, Schiavone Marco
Abstract excerpt
Myofibrillar myopathies (MFMs) are a group of hereditary neuromuscular disorders sharing common histological features, such as myofibrillar derangement, Z-disk disintegration, and the accumulation of degradation products into protein aggregates. They are caused by mutations in several genes that encode either structural proteins or molecular chaperones. Nevertheless, the mechanisms by which mutated genes result...
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