Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome
Abstract Background Marinesco-Sjögren syndrome (MSS) is an autosomal recessive neuromuscular disorder that arises in early childhood and is characterized by congenital cataracts, myopathy associated with muscle weakness, and degeneration of Purkinje neurons leading to ataxia. About 60% of MSS patien...
Váldodahkkit: | , , , , , , , , , , , |
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Materiálatiipa: | Artihkal |
Giella: | English |
Almmustuhtton: |
BMC
2024-08-01
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Ráidu: | Journal of Translational Medicine |
Fáttát: | |
Liŋkkat: | https://doi.org/10.1186/s12967-024-05582-0 |