Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.

ABSTRACT:

Objective

To investigate single muscle fiber contractile performance in muscle biopsies from patients with facioscapulohumeral muscular dystrophy (FSHD), one of the most common hereditary muscle disorders.

Methods

We collected 50 muscle biopsies (26 vastus lateralis, 24 tibialis anterior) from 14 patients with genetically confirmed FSHD and 12 healthy controls. Single muscle fibers (n = 547) were isolated for contractile measurements. Titin content and titin phosphorylation were examined in vastus lateralis muscle biopsies.

Results

Single muscle fiber specific force was intact at saturating and physiologic calcium concentrations in all FSHD biopsies, with (FSHD_FAT) and without (FSHD_NORMAL) fatty infiltration, compared to healthy controls. Myofila

SUBMITTER: Lassche S 

PROVIDER: S-EPMC7220237 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature