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To investigate a new therapeutic strategy for inherited asymmetrical myopathies, we generated a modified cysteine knot ligand trap of TGFβ superfamily members, ACE-083, which acts locally to increase skeletal muscle mass. ACE-083 binds to activin and myostatin and inhibits their signaling. Unlike ActRIIB-Fc, ACE-083 does not bind to ligands BMP9/10. To demonstrate the ability of ACE-083 to increase...
We report the first Australian families with inclusion-body myopathy, Paget’s disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one...
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