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

@article{Boehm2012MutationSI,
  title={Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.},
  author={Johann Boehm and Val{\'e}rie Biancalana and Elizabeth T. Dechene and Marc Bitoun and Christopher R. Pierson and Elise Schaefer and Hatice Karasoy and Melissa A Dempsey and Fabrice A. C. Klein and Nicolas Dondaine and Christine Kretz and Nicolas Haumesser and Claire Poirson and Anne Toussaint and Rebecca S. Greenleaf and Melissa A Barger and Lane J. Mahoney and Peter M. Kang and Edmar Zanoteli and John Vissing and Nanna Witting and Andoni Echaniz-Laguna and Carina Wallgren-Pettersson and James L. Dowling and Luciano Merlini and Anders Oldfors and Lilian Bomme Ousager and Judith Melki and Amanda Krause and Christina Jern and Acary de Souza Bulle Oliveira and Florence Petit and Aur{\'e}lia Jacquette and Annabelle Chaussenot and David Mowat and Bruno P. Leheup and Michele Cristofano and Juan Jos{\'e} Poza Aldea and Fabrice Michel and Alain Furby and Jose E Barcena Llona and Rudy Noel Van Coster and Enrico Bertini and Jon Andoni Urtizberea and Val{\'e}rie Drouin-Garraud and Christophe B{\'e}roud and Bernard Prudhon and Melanie Bedford and Katherine Mathews and Lori Erby and Stephen J. Smith and Jennifer Roggenbuck and Carol A. Crowe and Allison Brennan Spitale and Sheila C Johal and Anthony A. Amato and Laurie Demmer and Jessica M. Jonas and Basil T. Darras and Thomas Bird and Mercy Ygo{\~n}a Laurino and Selman I. Welt and Cynthia Trotter and Pascale Guicheney and Soma Das and Jean-Louis Mandel and Alan H. Beggs and Jocelyn Laporte},
  journal={Human mutation},
  year={2012},
  volume={33 6},
  pages={
          949-59
        }
}
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… CONTINUE READING
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Mutations in dynamin 2 cause dominant centronuclear myopathy

Nature Genetics • 2005
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