Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy-Reference-Cited by-同舟云学术

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Published:2018-09-12 Issue:1 Volume:6 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Biancalana Valérie^ORCID,Romero Norma B.,Thuestad Inger Johanne,Ignatius Jaakko,Kataja Janne,Gardberg Maria,Héron Delphine,Malfatti Edoardo,Oldfors Anders,Laporte Jocelyn

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-018-0593-2.pdf

Reference9 articles.

1. Bitoun M, Bevilacqua JA, Prudhon B et al (2007) Dynamin 2 mutations cause sporadic . Centronuclear myopathy with neonatal onset. Ann Neurol 62:666–670

2. Bitoun M, Maugenre S, Jeannet PY et al (2005) Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 37:1207–1209

3. Bohm J, Biancalana V, Dechene ET et al (2012) Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 33:949–959

4. Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M et al (2013) Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 23:229–238

5. Jungbluth H, Wallgren-Pettersson C, Laporte J (2008) Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 3:26

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