Author/Authors :
Haliloglu، Goknur نويسنده Professor of Pediatric Neurology, Hacettepe Children’s Hospital,Ankara, Turkey , , Topaloglu، Haluk نويسنده MD,Professor of Pediatric Neurology,Department of Child Neurology,Ankara, Turkey ,
Abstract :
Objective
Ullrich congenital muscular dystrophy is a rather severe type of congenital
muscular dystrophy with early onset features related to motor development.
In general it is inherited in autosomal recessive principles, however in the
Western world mostly seen with de novo dominant mutations in the collagen
VI genes. Milder form of the condition is the Bethlem myopathy. There may be
overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has
been some radical efforts for cure especially through the apoptosis cascades.
