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

Lookup NU author(s): Dr Simao Cruz, Sebastian Figueroa Bonaparte, Professor Jordi Diaz Manera

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Abstract

© 2016 - IOS Press and the authors. All rights reserved.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 the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.


Publication metadata

Author(s): Cruz S, Figueroa-Bonaparte S, Gallardo E, De Becdelievre A, Gartioux C, Allamand V, Pinol P, Garcia MAR, Jimenez-Mallebriera C, Llauger J, Gonzalez-Rodriguez L, Cortes-Vicente E, Illa I, Diaz-Manera J

Publication type: Article

Publication status: Published

Journal: Journal of Neuromuscular Diseases

Year: 2016

Volume: 3

Issue: 2

Pages: 267-274

Online publication date: 27/05/2016

Acceptance date: 02/04/2016

ISSN (print): 2214-3599

ISSN (electronic): 2214-3602

Publisher: IOS Press

URL: https://doi.org/10.3233/JND-150135

DOI: 10.3233/JND-150135

PubMed id: 27854213


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