Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.

ABSTRACT:

Background and purpose

Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding these conditions. This study aims to compare the muscle involvement patterns in two autosomal dominant, adult-onset titinopathies: Tibial Muscular Dystrophy (TMD) and Hereditary Myopathy with Early Respiratory Failure (HMERF).

Methods

In this multicenter, cross-sectional study, lower limb MRI scans were analyzed for 17 patients with TMD and 15 with HMERF. Clinical and demographic data were collected from medical records. Muscle fat replacement was assessed using a modified Mercuri score for 30 muscles per patient. Two independent evaluators reviewed the imag

SUBMITTER: Gomez-Andres D 

PROVIDER: S-EPMC12481456 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature