ColVI myopathies: where do we stand, where do we go?
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 myopathi...
Main Authors: | , , , , , |
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Format: | Online |
Language: | English |
Published: |
BioMed Central
2011
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189202/ |