Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Abstract

OBJECTIVE Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce. METHODS We retrospectively evaluated the long-term clinical… (More)
DOI: 10.1136/jnnp-2013-307245

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Cite this paper

@article{Deconinck2015BethlemML, title={Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.}, author={Nicolas Deconinck and Pascale Richard and Val{\'e}rie Allamand and Anthony B{\'e}hin and Pascal Laforet and Ana M. Ferreiro and Alix de becdelievre and C{\'e}line Ledeuil and Corinne Gartioux and Isabelle Nelson and R. Carlier and Pierre G. Carlier and Karim Wahbi and Norma Beatriz Romero and M. T. Zabot and Françoise Bouhour and Vincent Tiffreau and Arnaud Lacour and Bruno Eymard and Tanya Stojkovic}, journal={Journal of neurology, neurosurgery, and psychiatry}, year={2015}, volume={86 12}, pages={1337-46} }