Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.

ABSTRACT:

Objectives

Previous muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.

Materials and methods

This retrospective cohort study recruited patients with GNE myopathy or young adult-onset hereditary with limb girdle weakness pattern followed up in a single-center neuromuscular clinical registry between 2019 and 2023. Fatty tissue replacement was evaluated using a 5-point scale using T1-weighted images (T1WI) and proton-density fat fractions (PDFF) from mDIXON Quant images. Inflammation was evaluated using short tau inversion recovery imaging. The distribution and severity of muscle involvement in GNE myopathy were visualized usi

SUBMITTER: Boonsri P 

PROVIDER: S-EPMC12829776 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature