Histopathological correlations and fat replacement imaging patterns in recessive limb-girdle muscular dystrophy type 12.

ABSTRACT:

Background

Despite the widespread use of proton density fat fraction (PDFF) measurements with magnetic resonance imaging (MRI) to track disease progression in muscle disorders, it is still unclear how these findings relate to histopathological changes in muscle biopsies of patients with limb-girdle muscular dystrophy autosomal recessive type 12 (LGMDR12). Furthermore, although it is known that LGMDR12 leads to a selective muscle involvement distinct from other muscular dystrophies, the spatial distribution of fat replacement within these muscles is unknown.

Methods

We included 27 adult patients with LGMDR12 and 27 age-matched and sex-matched healthy controls and acquired 6-point Dixon images of the thighs and T1 and short tau inversion recovery (STIR) MR images of the whole

SUBMITTER: De Wel B 

PROVIDER: S-EPMC10235862 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature