Autor: Victor Morel
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
Collagen type VI-related dystrophies (COL6-RD) are rare diseases with a wide phenotypic spectrum ranging from severe Ullrich’s congenital muscular dystrophy Ullrich congenital muscular dystrophy to much milder Bethlem myopathy Both dominant and recessi…