Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Clara Soria-Valles; Dido Carrero; Elisabeth Gabau; Gloria Velasco; Víctor Quesada; Clea Bárcena; Marleen Moens; Karen Fieggen; Silvia Möhrcken; Martina Owens; Diana A Puente; Óscar Asensio; Bart Loeys; Ana Pérez; Valerie Benoit; Wim Wuyts; Nicolas Lévy; Raoul C Hennekam; Annachiara De Sandre-Giovannoli; Carlos López-Otín

doi:10.1136/jmedgenet-2015-103695

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Genotype-phenotype correlations

Original article

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

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Clara Soria-Valles Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles
Dido Carrero Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles
Elisabeth Gabau Servicio de Pediatría, Corporació Sanitària Parc Taulí, Sabadell, Spain PubMed articles Google scholar articles
Gloria Velasco Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles
Víctor Quesada Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles
Clea Bárcena Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles
Marleen Moens Rehabilitation Center for Children and Adolescents, Pulderbos, Belgium PubMed articles Google scholar articles
Karen Fieggen Division of Human Genetics, UCT Faculty of Health Sciences, Cape Town, South Africa PubMed articles Google scholar articles
Silvia Möhrcken Department of Pediatrics Medi Clinic Hospital, Swakopmund, Namibia PubMed articles Google scholar articles
Martina Owens Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK PubMed articles Google scholar articles
Diana A Puente Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles
Óscar Asensio Servicio de Pediatría, Corporació Sanitària Parc Taulí, Sabadell, Spain PubMed articles Google scholar articles
Bart Loeys Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium PubMed articles Google scholar articles
Ana Pérez Servicio de Pediatría, Corporació Sanitària Parc Taulí, Sabadell, Spain PubMed articles Google scholar articles
Valerie Benoit Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium PubMed articles Google scholar articles
Wim Wuyts Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium PubMed articles Google scholar articles
Nicolas Lévy Aix Marseille Université, INSERM, GMGF UMR_S 910 and Département de Génétique Médicale et de Biologie Cellulaire, AP-HM, Hôpital d′Enfants de la Timone, Marseille, France PubMed articles Google scholar articles
Raoul C Hennekam Department of Pediatrics, Academic Medical Center/Emma Pediatric Hospital, Amsterdam, The Netherlands PubMed articles Google scholar articles
Annachiara De Sandre-Giovannoli Aix Marseille Université, INSERM, GMGF UMR_S 910 and Département de Génétique Médicale et de Biologie Cellulaire, AP-HM, Hôpital d′Enfants de la Timone, Marseille, France PubMed articles Google scholar articles
Carlos López-Otín Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain PubMed articles Google scholar articles

Correspondence to Professor Carlos López-Otín, Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad de Oviedo, Oviedo 33006, Spain; clo{at}uniovi.es

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Citation

Soria-Valles C, Carrero D, Gabau E, et al

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Journal of Medical Genetics 2016;53:776-785.

Publication history

Received December 8, 2015
Revised May 12, 2016
Accepted May 26, 2016
First published June 22, 2016.

Online issue publication

October 21, 2016

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