Early onset collagen VI myopathies: Genetic and clinical correlations.

  title={Early onset collagen VI myopathies: Genetic and clinical correlations.},
  author={Laura Bri{\~n}as and Pascale Richard and Susana Quijano-Roy and Corine Gartioux and C{\'e}line Ledeuil and Emmanuelle Lac{\`e}ne and Samira Makri and A. Lopez Ferreiro and Svetlana Maugenre and Haluk Topaloğlu and G{\"o}knur Haliloğlu and Isabelle P{\'e}nisson-Besnier and P Y Jeannet and Luciano Merlini and Carmen Navarro and Annick Toutain and Denys Chaigne and Isabelle Desguerre and Christine E M de Die-Smulders and Murielle Dunand and Bernard Echenne and Bruno Eymard and Thierry Kuntzer and Kim Maincent and Mich{\`e}le Mayer and Ghislaine Plessis and François Rivier and Filip Roelens and Tanya Stojkovic and Ana L{\'i}a Taratuto and Fabiana J Lubieniecki and Soledad Monges and Christine Tranchant and Louis Viollet and Norma Beatriz Romero and Brigitte Estournet and Pascale Guicheney and Val{\'e}rie Allamand},
  journal={Annals of neurology},
  volume={68 4},
OBJECTIVE Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations. METHODS Patients were classified into 3 groups: early-severe (18… CONTINUE READING


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Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients

  • S Quijano Roy, V Allamand, N Riahi
  • 12th International Congress of the World Muscle…
  • 2007

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