A selection of articles about centronuclear and myotubular myopathy that are available freely online can be found below. If you would like to suggest an article for inclusion on this page, please get in touch. *
2020
- Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein
PNAS, 11 August 2020
2019
- Translational medicine in neuromuscular disorders: from academia to industry
The Company of Biologists, 24 October 2019 - Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
BMJ Journals, 4 September 2019 - Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model
Nature.com, 7 February 2019
2018
- Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Acta Neuropathologica Communications, 12 September 2018 - Endoscopic Third Ventriculostomy with Choroid Plexus Coagulation for Treatment of Hydrocephalus in X-linked Myotubular Myopathy: A Novel Approach
Cureus, 5 April 2018
2017
- Allele-specific silencing therapy for Dynamin 2 related dominant centronuclear myopathy
The Journal of Clinical Investigation, 15 December 2017 - Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
The Journal of Clinical Investigation, 13 November 2017 - Novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
Neurology Genetics, 1 October 2017 - A natural history study of X-linked myotubular myopathy
Neurology.org, 25 August 2017 - Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
NCBI, 4 August 2017 - Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
nature.com, 27 July 2017 - Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
http://onlinelibrary.wiley.com, 22 May 2017 - Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
ScienceDirect, 22 February 2017
2016
- PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
The Journal of Clinical Investigation, 22 August 2016 - Zebrafish as a Model to Investigate Dynamin 2-Related Diseases
nature.com, 4 February 2016 - Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
jnen.oxfordjournals.org, 28 January 2016
2015
- The kalaemic and neuromuscular effects of succinylcholine in centronuclear myopathy: A pilot investigation in a canine model
European Journal of Anaesthesiology, October 2015 - Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation
Oxford Journals, 13 July 2015 - DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
Genetics and Molecular Biology, June 2015 - Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
Disease Models and Mechanisms, May 2015 - Fatal hepatic Hemorrhage from Peliosis Hepatis with X-linked Myotubular Myopathy
Journal of Pediatric Gastroenterology and Nutrition, May 2015 - Gene therapy in myotubular myopathy: promising progress and future directions
Annals of Translational Medicine, April 2015 - X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
Skeletal Muscle Journal, 27 January 2015
2014
- Molecular analysis of a Brazilian cohort of myotubular and centronuclear myopathy patients
NMD Journal, October 2014 - Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Oxford Jornals, 26 September 2014 - SPEG interacts with myotubularin and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
American Journal of Human Genetics, 5 August 2014 - Preclinical Success in Two X-Linked Pediatric Diseases Sets Stage for Clinical Trials
Neurology Today, 6 March 2014 - Dynamin 2 to the rescue
The Journal of Clinical Investigation, 3 March 2014 - Reducing dynamin 2 expression reduces x-linked myotubular myopathy
The Journal of Clinincal Investigation, 3 March 2014
2012
- Phosphatase-dead myotubularin ameliorates x-linked centronuclear myopathy phenotypes in mice
PLOS Genetics, 11 October 2012 - Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide
PLOS, 5 October 2012
2009
- Loss of Myotubularin function results in T-Tubule disorganization in zebrafish and human myotubular myopathy
PLOS Genetics, 6 February 2009
2004
- Clinical and histologic findings in autosomal centronuclear myopathy
Neurology, 11 May 2004
1997
- Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy
Oxford Academic, 6 February 1997
* Note
Due to the cost of purchasing research articles and copyright issues, it is not currently possible for the Information Point to provide the original documents at this website. However, all articles relating to CNM/MTM that have been partially funded by the US National Institues of Health (NIH) are now available at PubMed Central as a result of the NIH Public Access Policy. The articles are free to read, download and distribute from this location.
Whilst NIH are not the only organisation to publish articles on CNM/MTM, the release of their articles for free at PubMed Central is a positive step in getting information about CNM/MTM in to the public domain. Abstracts of other articles are available at PubMed which link through to the journal webpage where you can purchase the full articles. The price varies, although occasionally the articles are free depending on the journal and there is a trend for some new journals such as Public Library of Science (PLOS) to have free access to their articles.
centronuclear.org.uk 