Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.

Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest with m...

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Bibliographic Details
Main Authors: Katarzyna A Piróg, Yoshihisa Katakura, Aleksandr Mironov, Michael D Briggs
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0082412&type=printable
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