Early onset collagen VI myopathies: Genetic and clinical correlations.

doi:10.1002/ana.22087

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Article

Early onset collagen VI myopathies: Genetic and clinical correlations.

Annals of neurology - 1 Oct 2010

Briñas Laura, Richard Pascale, Quijano-Roy Susana, Gartioux Corine, Ledeuil Céline, Lacène Emmanuelle, Makri Samira, Ferreiro Ana, Maugenre Svetlana, Topaloglu Haluk, Haliloglu Göknur, Pénisson-Besnier Isabelle, Jeannet Pierre-Yves, Merlini Luciano, Navarro Carmen, Toutain Annick, Chaigne Denys, Desguerre Isabelle, de Die-Smulders Christine, Dunand Murielle, Echenne Bernard, Eymard Bruno, Kuntzer Thierry, Maincent Kim, Mayer Michèle, Plessis Ghislaine, Rivier François, Roelens Filip, Stojkovic Tanya, Taratuto Ana Lía, Lubieniecki Fabiana, Monges Soledad, Tranchant Christine, Viollet Louis, Romero Norma B, Estournet Brigitte, Guicheney Pascale, Allamand Valérie

Abstract excerpt

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...

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PMID: 20976770
DOI: 10.1002/ana.22087

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