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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Human Mutation, Volume 33, No. 6, Year 2012
Notification
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Description
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. © 2012 Wiley Periodicals, Inc.
Authors & Co-Authors
Böhm, Johann
France, Strasbourg
Université de Strasbourg
Biancalana, Valérie
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Hopital Civil
DeChene, Elizabeth T.
United States, Boston
Boston Children's Hospital
Bitoun, Marc
France, Paris
Centre de Recherche en Myologie
Pierson, Christopher R.
United States, Boston
Boston Children's Hospital
United States, Columbus
The Ohio State University
Schaefer, Élise
France, Strasbourg
Hopital Civil
Karasoy, Hatice
Turkey, Izmir
Ege University Medical School
Dempsey, Melissa A.
United States, Chicago
The University of Chicago
Klein, Fabrice
France, Strasbourg
Université de Strasbourg
Dondaine, Nicolas
France, Strasbourg
Hopital Civil
Kretz, Christine
France, Strasbourg
Université de Strasbourg
Haumesser, Nicolas
France, Strasbourg
Université de Strasbourg
Poirson, Claire
France, Strasbourg
Université de Strasbourg
Toussaint, Anne
France, Strasbourg
Université de Strasbourg
Greenleaf, Rebecca S.
United States, Boston
Boston Children's Hospital
Barger, Melissa A.
United States, Boston
Boston Children's Hospital
Mahoney, Lane J.
United States, Boston
Boston Children's Hospital
Kang, Peter B.
United States, Boston
Boston Children's Hospital
Zanoteli, Edmar
Brazil, Sao Paulo
Universidade de São Paulo
Vissing, John
Denmark, Copenhagen
Københavns Universitet
Witting, Nanna
Denmark, Copenhagen
Københavns Universitet
Echaniz-Laguna, Andoni
France, Strasbourg
Hopital Civil
Wallgren-Pettersson, Carina
Finland, Helsinki
Folkhälsan Institute of Genetics
Finland, Helsinki
Haartman Institute
Dowling, James J.
United States, Ann Arbor
Michigan Medicine
Merlini, Luciano
Italy, Bologna
Irccs Rizzoli Orthopaedic Institute, Bologna
Oldfors, Anders
Sweden, Gothenburg
Sahlgrenska Universitetssjukhuset
Ousager, Lilian Bomme
Denmark, Odense
Odense Universitetshospital
Melki, Judith
France, Le Kremlin-bicetre
Neuroprotection et Neurorégénération : Molécules Neuroactives de Petite Taille
Krause, Amanda
South Africa, Johannesburg
University of the Witwatersrand
Jern, Christina
Sweden, Gothenburg
Göteborgs Universitet
Oliveira, Acary S.B.
Brazil, Sao Paulo
Universidade Federal de São Paulo
Petit, Florence
France, Lille
Chu Lille
Jacquette, Aurélia
Unknown Affiliation
Chaussenot, Annabelle
France, Nice
Centre Hospitalier Universitaire de Nice
Mowat, David R.
Australia, Sydney
Sydney Children's Hospital, Randwick
Leheup, Bruno P.
France, Nancy
Chu de Nancy
France, Nancy
Université de Lorraine
Cristofano, Michele
Italy, Pisa
Azienda Ospedaliero Universitaria Pisana
Aldea, Juan José Poza
Spain, Donostia-san Sebastian
Osakidetza, Donostia University Hospital
Michel, Fabrice
France, Besancon
Centre Hospitalier Universitaire de Besançon
Furby, Alain
France, Saint-etienne
Hôpital Nord Chu de Sainte-etienne
Llona, Jose E.Barcena
Unknown Affiliation
van Coster, Rudy N.A.
Belgium, Ghent
Universitair Ziekenhuis Gent
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Urtizberea, Jean Andoni M.
France, Paris
Hôpital Marin
Drouin-Garraud, Valérie
France, Rouen
Chu Rouen Normandie
Beroud, Christophe
France, Paris
Inserm
Prudhon, Bernard
France, Paris
Centre de Recherche en Myologie
Bedford, Melanie
Canada, Toronto
North York General Hospital
Mathews, Katherine D.
United States, Iowa City
University of Iowa Carver College of Medicine
Erby, Lori A.H.
United States, Baltimore
Johns Hopkins Bloomberg School of Public Health
United States, Baltimore
Johns Hopkins School of Medicine
Smith, Stephen A.
United States, Minneapolis
Hennepin County Medical Center
United States, Minneapolis
Gillette Children's Specialty Healthcare
Roggenbuck, Jennifer
United States, Minneapolis
Children's Hospitals and Clinics of Minnesota
Crowe, Carol A.
United States, Cleveland
Case School of Medicine
Spitale, Allison Brennan
United States, Cleveland
Case School of Medicine
Johal, Sheila C.
United States, Cleveland
Case School of Medicine
Amato, Anthony A.
United States, Boston
Massachusetts General Hospital
Demmer, Laurie A.
United States, Boston
Tufts Medical Center
Jonas, Jessica
United States, Boston
Tufts Medical Center
Darras, Basil T.
United States, Boston
Boston Children's Hospital
Bird, Thomas D.
United States, Seattle
University of Washington
Laurino, Mercy
United States, Seattle
University of Washington
Welt, Selman I.
United States, Lubbock
Ttuhsc School of Medicine, Lubbock
United States, Johnson
Quillen-dishner College of Medicine
Trotter, Cynthia
United States, Lubbock
Ttuhsc School of Medicine, Lubbock
United States, Westborough
Genzyme Genetics
Guicheney, Pascale
France, Paris
Centre de Recherche en Myologie
Das, Soma
United States, Chicago
The University of Chicago
Mandel, Jean Louis
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Hopital Civil
Beggs, Alan H.
United States, Boston
Boston Children's Hospital
Laporte, Jocelyn Franck
France, Strasbourg
Université de Strasbourg
Statistics
Citations: 116
Authors: 68
Affiliations: 47
Identifiers
Doi:
10.1002/humu.22067
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study