Methods and compositions for the treatment of myotubular myopathy using chimeric polypeptides comprising myotubularin 1 (mtm1) polypeptides

摘要

Chimeric polypeptide comprising: (i) a myotubularin polypeptide (MTM1), or a fragment thereof and (ii) an internalizing group, where the chimeric polypeptide has phosphoinositide phosphatase activity; wherein the internalizing group is an antibody or an antigen binding fragment thereof, wherein said antibody or antigen binding fragment comprises a heavy chain variable domain (VH) and a light chain variable domain (VL), where the VH it comprises an amino acid sequence that is at least 90% identical to the amino acid sequence described in SEQ ID NO: 2, or a humanized variant thereof, and the VL comprises an amino acid sequence that is at least 90% identical to the amino acid sequence described in SEQ ID NO: 4, or a humanized variant thereof thereof.