Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.

ABSTRACT:

Background

Although muscle weakness is a hallmark of facioscapulohumeral muscular dystrophy (FSHD), the molecular mechanisms that lead to weakness in FSHD remain largely unknown. Recent studies suggest aberrant expression of genes involved in skeletal muscle development and sarcomere contractility, and activation of pathways involved in sarcomeric protein degradation. This study will investigate the contribution of sarcomeric protein dysfunction to the pathogenesis of muscle weakness in FSHD.

Methods/design

Evaluation of sarcomeric function using skinned single muscle fiber contractile studies and protein analysis in muscle biopsies (quadriceps femoris and tibialis anterior) from patients with FSHD and age- and gender-matched healthy controls. Patients with other forms of mu

SUBMITTER: Lassche S 

PROVIDER: S-EPMC3852245 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature