Search results for "Facioscapulohumeral muscular dystrophy"
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FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
2013
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD region gene 1 (FRG1) since its over-expression in mice, Xenopus laevis and Caenorhabditis elegans, leads to muscular dystrophy-like defects, suggesting that FRG1 plays a relevant role in muscle biology. Here we show that, when over-expressed, FRG1 binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila. Accordingly, FRG1 over-expression or Suv4-20h1 knockdown inhibits myogenesis. Moreov…
MRI findings and evoked potentials in patients with myotonic dystrophy versus facioscapulohumeral dystrophy
1997
Evoked potentials recordings have been applied to many neurological disorders, localizing the lesions in the central nervous system (CNS) pathways. Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive degenerative disease involving the muscles of the face and shoulders. On the contrary, myotonic distrophy (MD), the most frequent and severe myotonic disease, is caracterized by myotonia (delay of relaxation after voluntary contraction), muscular atrophy and dystrophic changes in non-muscular tissues. In the present investigation, patients with clinically and electromyographically verified FSHD and MD were examined using somatosensory evoked potentials (SEP) and brainstem aud…