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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Artikel i vetenskaplig tidskrift
Författare Johann Böhm
Valérie Biancalana
Elizabeth T Dechene
Marc Bitoun
Christopher R Pierson
Elise Schaefer
Hatice Karasoy
Melissa A Dempsey
Fabrice Klein
Nicolas Dondaine
Christine Kretz
Nicolas Haumesser
Claire Poirson
Anne Toussaint
Rebecca S Greenleaf
Melissa A Barger
Lane J Mahoney
Peter B Kang
Edmar Zanoteli
John Vissing
Nanna Witting
Andoni Echaniz-Laguna
Carina Wallgren-Pettersson
James Dowling
Luciano Merlini
Anders Oldfors
Lilian Bomme Ousager
Judith Melki
Amanda Krause
Christina Jern
Acary S B Oliveira
Florence Petit
Aurélia Jacquette
Annabelle Chaussenot
David Mowat
Bruno Leheup
Michele Cristofano
Juan José Poza Aldea
Fabrice Michel
Alain Furby
Jose E Barcena Llona
Rudy Van Coster
Enrico Bertini
Jon Andoni Urtizberea
Valérie Drouin-Garraud
Christophe Béroud
Bernard Prudhon
Melanie Bedford
Katherine Mathews
Lori A H Erby
Stephen A Smith
Jennifer Roggenbuck
Carol A Crowe
Allison Brennan Spitale
Sheila C Johal
Anthony A Amato
Laurie A Demmer
Jessica Jonas
Basil T Darras
Thomas D Bird
Mercy Laurino
Selman I Welt
Cynthia Trotter
Pascale Guicheney
Soma Das
Jean-Louis Mandel
Alan H Beggs
Jocelyn Laporte
Publicerad i Human mutation
Volym 33
Nummer/häfte 6
Sidor 949-59
ISSN 1098-1004
Publiceringsår 2012
Publicerad vid Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik
Institutionen för biomedicin, avdelningen för patologi
Sidor 949-59
Språk en
Länkar dx.doi.org/10.1002/humu.22067
Ämnesord Amino Acid Sequence, Dynamin II, chemistry, genetics, Genes, Dominant, Genetic Association Studies, Humans, Molecular Sequence Data, Mutation, Myopathies, Structural, Congenital, diagnosis, genetics, Polymorphism, Genetic, Sequence Alignment
Ämneskategorier Klinisk medicin

Sammanfattning

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.

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