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

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 wer...

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Veröffentlicht in:	Annals of neurology 2008-08, Vol.64 (2), p.177-186
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Child Child, Preschool Diseases of striated muscles. Neuromuscular diseases Female Genetic Markers - genetics Humans Lamin Type A - genetics Male Medical sciences Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Mutation - genetics Neurology
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