Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Abstract

The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series… (More)

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