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  • Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

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Original article
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Authors

  • Simone Sampaolo Neurology Clinic II and Reference Center for Rare Neuromuscular Disorders, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, Università degli Studi della Campania ’Luigi Vanvitelli', Naples, Italy PubMed articlesGoogle scholar articles
  • Filomena Napolitano Institute of Genetics and Biophysics ’Adriano Buzzati-Traverso', National Research Council, Naples, Italy PubMed articlesGoogle scholar articles
  • Alfonsina Tirozzi IRCCS INM Neuromed, Pozzilli, Italy PubMed articlesGoogle scholar articles
  • Mafalda Giovanna Reccia IRCCS INM Neuromed, Pozzilli, Italy PubMed articlesGoogle scholar articles
  • Luca Lombardi Neurology Clinic II and Reference Center for Rare Neuromuscular Disorders, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, Università degli Studi della Campania ’Luigi Vanvitelli', Naples, Italy PubMed articlesGoogle scholar articles
  • Olimpia Farina Neurology Clinic II and Reference Center for Rare Neuromuscular Disorders, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, Università degli Studi della Campania ’Luigi Vanvitelli', Naples, Italy PubMed articlesGoogle scholar articles
  • Adriano Barra Institute of Genetics and Biophysics ’Adriano Buzzati-Traverso', National Research Council, Naples, Italy PubMed articlesGoogle scholar articles
  • Ferdinando Cirillo Department of Clinical Medicine and Surgery, University of Naples ’Federico II', Naples, Italy PubMed articlesGoogle scholar articles
  • Mariarosa Anna Beatrice Melone Neurology Clinic II and Reference Center for Rare Neuromuscular Disorders, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, Università degli Studi della Campania ’Luigi Vanvitelli', Naples, Italy PubMed articlesGoogle scholar articles
  • Fernando Gianfrancesco Institute of Genetics and Biophysics ’Adriano Buzzati-Traverso', National Research Council, Naples, Italy PubMed articlesGoogle scholar articles
  • Giuseppe Di Iorio Neurology Clinic II and Reference Center for Rare Neuromuscular Disorders, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, Università degli Studi della Campania ’Luigi Vanvitelli', Naples, Italy PubMed articlesGoogle scholar articles
  • Teresa Esposito Institute of Genetics and Biophysics ’Adriano Buzzati-Traverso', National Research Council, Naples, Italy IRCCS INM Neuromed, Pozzilli, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Teresa Esposito, Istituto di Genetica e Biofisica Adriano Buzzati Traverso,Consiglio Nazionale delle Ricerche, Via Pietro Castellino 111, 80131, Napoli, Italy.; teresa.esposito{at}igb.cnr.it
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Citation

Sampaolo S, Napolitano F, Tirozzi A, et al
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix
Journal of Medical Genetics 2017;54:710-720.

Publication history

  • Received January 24, 2017
  • Revised June 15, 2017
  • Accepted June 21, 2017
  • First published July 22, 2017.
Online issue publication 
November 15, 2017

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.