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References

These sources were used to develop the Genetics Home Reference condition summary on Ullrich congenital muscular dystrophy.

Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24. PubMed citation
Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet. 2005 Sep;42(9):673-85. Review. PubMed citation
Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. PubMed citation

Reviewed: October 2010

Published: May 20, 2013