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Novel mutations identified in patients with a mild phenotype of Ullrich congenital muscular dystrophy through targeted next‐generation sequencing

Ullrich congenital muscular dystrophy, caused by collagen VI deficiency, is heterogeneous in both clinical and pathological phenotype. The aim of the present study was to identify the molecular mechanisms in two sporadic Japanese patients with congenital multiple joint contractures, hyperextension of joints and muscle weakness, but without severe respiratory failure in their 20s.