Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology - 1 Aug 2008
Quijano-Roy Susana, Mbieleu Blaise, Bönnemann Carsten G, Jeannet Pierre-Yves, Colomer Jaume, Clarke Nigel F, Cuisset Jean-Marie, Roper Helen, De Meirleir Linda, D'Amico Adele, Ben Yaou Rabah, Nascimento Andrés, Barois Annie, Demay Laurence, Bertini Enrico, Ferreiro Ana, Sewry Caroline A, Romero Norma B, Ryan Monique, Muntoni Francesco, Guicheney Pascale, Richard Pascale, Bonne Gisèle, Estournet Brigitte
Abstract excerpt
OBJECTIVE: To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations. METHODS: Fifteen patients presenting with a myopathy of onset in the first year of life were subjected to neurological and genetic evaluation. Histopathological and immunohistochemical analyses were performed for all patients. RESULTS: The 15 patients presented with muscle weakness in the first year of life,...
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