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an aberrant MTMR1 expression and signs of altered myofiber maturation were documented in both DM1 (show DMPK Proteins) and in DM2 (show CNBP Proteins) muscle tissues.
Altered splicing of MTMR1 RNA in the pathological context of congenital myotonic dystrophy
REVIEW : MTMR1 belongs to the myotubularin (show MTM1 Proteins) family of phosphoinositides phosphatases
This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.
myotubularin related protein 1
, myotubularin-related protein 1-like
, myotubularin-related protein 1