Ullrich Congenital Muscular Dystrophy
Iranian Journal of Child Neurology,
Vol. 5 No. 3 (2011),
1 July 2011
,
Page 1-13
https://doi.org/10.22037/ijcn.v5i3.2400
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.
Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlem
myopathy, autophagy.
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