You are here

Article info

Article menu
Download PDFPDF
Phenotypes
Short report
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Authors

  • Marianna Ciccolella Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Stefania Corti Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy PubMed articlesGoogle scholar articles
  • Michela Catteruccia Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Stefania Petrini Confocal Microscopy Core Facility, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Giulia Tozzi Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Teresa Rizza Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Rosalba Carrozzo Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Monica Nizzardo Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy PubMed articlesGoogle scholar articles
  • Andreina Bordoni Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy PubMed articlesGoogle scholar articles
  • Dario Ronchi Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy PubMed articlesGoogle scholar articles
  • Adele D'Amico Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Cristiano Rizzo Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Giacomo Pietro Comi Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy PubMed articlesGoogle scholar articles
  • Enrico Bertini Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Enrico Bertini, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children's Research Hospital, P.za S. Onofrio, 4; Rome 00165, Italy; ebertini{at}tin.it
View Full Text

Citation

Ciccolella M, Corti S, Catteruccia M, et al
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
Journal of Medical Genetics 2013;50:104-107.

Publication history

  • Received July 31, 2012
  • Revised November 12, 2012
  • Accepted November 14, 2012
  • First published December 14, 2012.
Online issue publication 
April 27, 2016

Article Versions

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions