Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Benjamin T CocanougherLauren FlynnPomi YunMinal JainMelissa WaiteRuhi VasavadaJason D WittenbachSabine de ChastonaySameer ChhibberA Micheil InnesLinda MacLarenTahseen MozaffarAndrew E AraiSandra DonkervoortCarsten G BonnemannA Reghan FoleyPublished in: Neurology (2019)
This work illustrates the phenotypic range of MTM1-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.