De novo LMNA mutations cause a new form of congenital muscular dystrophy

@article{Quijanoroy2008DeNL,
  title={De novo LMNA mutations cause a new form of congenital muscular dystrophy},
  author={S. Quijano-roy and Blaise Mbieleu and Carsten G. B{\"o}nnemann and P. Y. Jeannet and Jaume Colomer and Nigel F. Clarke and Jean Marie Cuisset and Helen Roper and Linda de Meirleir and Adele D'Amico and Rabah Ben Yaou and Andres Nascimento and Annie Barois and Laurence Demay and Enrico Silvio Bertini and Ana Ferreiro and Caroline A. Sewry and Norma Beatriz Romero and Monique M. Ryan and Francesco Muntoni and Pascale Guicheney and Pascale Richard and Gisèle Bonne and Brigitte Estournet},
  journal={Annals of Neurology},
  year={2008},
  volume={64}
}
OBJECTIVE To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations. [...] Key MethodMETHODS 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, and all had de novo heterozygous LMNA mutations.Expand
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