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 Foley

Published 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.

Keyphrases

gene therapy
deep learning
machine learning
clinical trial
skeletal muscle
late onset
blood pressure
magnetic resonance imaging
depressive symptoms
high throughput
muscular dystrophy
current status
computed tomography
contrast enhanced
early onset
diffusion weighted imaging
early life