Bethlem myopathy: a series of 16 patients and description of seven new associated mutations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

Luísa Panadés-de Oliveira, Claudia Rodríguez-López, Diana Cantero Montenegro, María del Mar Marcos Toledano, Ana Fernández-Marmiesse, Jesús Esteban Pérez, Aurelio Hernández Lain, Cristina Domínguez-González

ABSTRACT

BACKGROUND: Bethlem myopathy represents the milder phenotype of collagen type VI-related myopathies. However, clinical manifestations are highly variable among patients and no phenotype-genotype correlation has been described. We aim to analyse the clinical, pathological and genetic features of a series of patients with Bethlem myopathy, and we describe seven new mutations. METHODS: A series of 16 patients with the diagnosis of Bethlem myopathy were analyzed retrospectively from their medical records for clinical, creatine kinase (CK), muscle biopsy, and muscle magnetic resonance (MRI) data. Genetic testing was performed through next-generation sequencing of custom amplicon-based targeted genes panel of myopathies. Mutations were confirmed by Sanger sequencing. RESULTS: The most frequent phenotype consisted of proximal limb weakness associated with interphalangeal and wrists contractures. However, cases with isolated contractures or isolated myopathy were found. CK levels did not correlate with severity of the disease. The most frequent mutation was the COL6A3 variant c.7447A>G, p.Lys2486Glu, with either an homozygous or compound heterozygous presentation. Five new mutations were found in COL6A1 gene and other two in COL6A3 gene, all of them with a dominant heritability pattern. From these, a new COL6A1 mutation (c.1657G>A, p.Glu553Arg) was related to an oligosymptomatic phenotype with predominating contractures in the absence of weakness and a normal muscle MRI. Finally, the most common COL6A1 mutation reported to date that leads to an Ullrich phenotype (c. 868G>A, p.Gly290Arg), has been found here as Bethlem presentation. CONCLUSIONS: Manifestations of Bethlem myopathy are quite variable, so either contractures or weakness may be lacking, and no phenotype-genotype associations can be brought. More... »

PAGES

934-941

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-019-09217-z

DOI

http://dx.doi.org/10.1007/s00415-019-09217-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111822139

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30706156


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