Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy.

ABSTRACT:

Objective

To characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (¹H-MRS).

Methods

Skeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and short tau inversion recovery (STIR) images, T1 and T2 mapping, and ¹H-MRS. Measures evaluated included longitudinal relaxation time (T1), transverse relaxation time (T2), and ¹H-MRS fat fraction (FF). Thigh muscle volume was correlated with relevant measures of strength, function, and patient-reported outcomes.

Results

The cohort was representative of a wide range of disease progression. Contractile thigh

SUBMITTER: Liu CY 

PROVIDER: S-EPMC7884988 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature