Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum

In this report we describe the clinical features and evolution, as well as MRI, muscle biopsy and skin fibroblasts culture's findings of a group of 8 patients carrying mutations in COL6A1, COL6A2 or COL6A3 genes with a long follow up duration.

Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: S. Cruz, S. Figueroa-Bonaparte, E. Gallardo, A. de Becdeli èvre, C. Gartioux, V. Allamand, P. Piñol, M. Rodríguez-García, C. Jiménez-Mallebrera, J. Llauger, L. González-Rodríguez, E. Cortés-Vicente, I. Illa, J. Díaz-Manera Source Type: research