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Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

27 Jul 2023

Abstract excerpt

The extracellular matrix (ECM) has an important role in the development and maintenance of skeletal muscle, and several muscle diseases are associated with the dysfunction of ECM elements. MAMDC2 is a putative ECM protein and its role in cell proliferation has been investigated in certain cancer types. However, its participation in skeletal muscle physiology has not been previously studied. We describe 17...

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PMID: 37503746
DOI: 10.1093/brain/awad256

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