The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

doi:10.1093/hmg/ddw033

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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

Human molecular genetics - 15 Apr 2016

Davignon Laurianne, Chauveau Claire, Julien Cédric, Dill Corinne, Duband-Goulet Isabelle, Cabet Eva, Buendia Brigitte, Lilienbaum Alain, Rendu John, Minot Marie Christine, Guichet Agnès, Allamand Valérie, Vadrot Nathalie, Fauré Julien, Odent Sylvie, Lazaro Leïla, Leroy Jean Paul, Marcorelles Pascale, Dubourg Odile, Ferreiro Ana

Abstract excerpt

Despite recent progress in the genetic characterization of congenital muscle diseases, the genes responsible for a significant proportion of cases remain unknown. We analysed two branches of a large consanguineous family in which four patients presented with a severe new phenotype, clinically marked by neonatal-onset muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin...

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PMID: 27008887
DOI: 10.1093/hmg/ddw033

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