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Article

ColVI myopathies: where do we stand, where do we go?

1 Jan 2011

Abstract excerpt

Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathies also share common features with other disorders associated with prominent muscle contractures, making...

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PMID: 21943391
DOI: 10.1186/2044-5040-1-30

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