Adult <i>MTM1</i> -related myopathy carriers

Abstract

This work illustrates the phenotypic range of <i>MTM1</i>-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, PFT, and MFM-32 scale composite score findings, which may serve as markers of disease progression and outcome measures in future gene therapy or other clinical trials.