Ullrich Congenital Muscular Dystrophy
نویسندگان
1 Professor of Pediatric Neurology, Hacettepe Children’s Hospital,Ankara, Turkey
2 MD,Professor of Pediatric Neurology,Department of Child Neurology,Ankara, Turkey
doi
10.22037/ijcn.v5i3.2400چکیده
ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.
