<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

ABSTRACT:

Background

Myosin heavy chain 7 (MYH7)-related myopathies (MYH7-RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.

Methods

We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 MYH7 patients. Patients received a thorough neurological (n=57, 100%), cardiac (n=51, 89%) and respiratory (n=45, 79%) assessment. Muscle imaging findings and muscle biopsies were reappraised in 19 (33%) and 27 (47%) patients, respectively.

Results

We ide

SUBMITTER: Bahout M 

PROVIDER: S-EPMC12015026 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature