Abstract
Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD) are caused by mutations in the collagen VI-encoding genes. Patients with classical BM become symptomatic within the first or second decade of life with the development of joint contractures. More severe clinical phenotypes, now termed intermediate and overlapping with UCMD, have expanded the spectrum of clinical presentation of collagen VI myopathies.
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