Article
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Human mutation - 1 Jan 2015
Donkervoort Sandra, Hu Ying, Stojkovic Tanya, Voermans Nicol C, Foley A Reghan, Leach Meganne E, Dastgir Jahannaz, Bolduc Véronique, Cullup Thomas, de Becdelièvre Alix, Yang Lin, Su Hai, Meilleur Katherine, Schindler Alice B, Kamsteeg Erik-Jan, Richard Pascale, Butterfield Russell J, Winder Thomas L, Crawford Thomas O, Weiss Robert B, Muntoni Francesco, Allamand Valérie, Bönnemann Carsten G
Abstract excerpt
Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We present clinical, immunohistochemical, and genetic data on four COL6-RD families with marked...
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