Article
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
Annals of neurology - 1 Jan 2011
Foley A Reghan, Hu Ying, Zou Yaqun, Yang Michele, Medne Līvija, Leach Meganne, Conlin Laura K, Spinner Nancy, Shaikh Tamim H, Falk Marni, Neumeyer Ann M, Bliss Laurie, Tseng Brian S, Winder Thomas L, Bönnemann Carsten G
Abstract excerpt
Two mutational mechanisms are known to underlie Ullrich congenital muscular dystrophy (UCMD): heterozygous dominant negatively-acting mutations and recessively-acting loss-of-function mutations. We describe large genomic deletions on chromosome 21q22.3 as a novel type of mutation underlying recessively inherited UCMD in 2 families. Clinically unaffected parents carrying large genomic deletions of COL6A1and...
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