Article
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
Journal of neuromuscular diseases - 27 May 2016
Cruz Simao, Figueroa-Bonaparte Sebastian, Gallardo Eduard, de Becdelièvre Alix, Gartioux Corine, Allamand Valérie, Piñol Patricia, Garcia Maria Angels Rodriguez, Jiménez-Mallebriera Cecilia, Llauger Jaume, González-Rodríguez Lidia, Cortes-Vicente Elena, Illa Isabel, Díaz-Manera Jordi
Abstract excerpt
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 of patients with Bethlem myopathy. Our series highlights...
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