• A new UK-based research project to understand ‘normal breathing’ in under 6’s calls for participants to help our XLMTM community
    About the “Breathing Muscle Strength in Healthy Children” Study at Brunel University London Brunel University London is involved in an […]
  • The First Cork Hope Walk
    It really didn’t matter that it rained on and off, nothing could spoil the good mood of the walkers who had come along for the first Cork Hope Walk. The 8km walk, which was arranged by Orla Lynch and Stephen Stack, took us along the beautiful Rochestown to Blackrock coastal path. The views were stunning despite the grey sky, and we even got to admire Blackrock Castle where we stopped for the obligatory group photos. […]
  • Fundraising For Ruben
    Over 230 guests attended a hugely successful evening event that was arranged by Siân Carson whose gorgeous one year old son, Rubén, has myotubular myopathy. For the price of their tickets guests got to enjoy a beautifully decorated venue, lovely food, great music and endless great opportunities to raise funds. And boy did they do an amazing job of raising funds… […]
  • The Devon Hope Walk turns into a series of walks, raising over £1300 for Myotubular Trust!
    This year we tentatively planned a fourth Devon Hope Walk for the Myotubular Trust for early September, hoping everyone could make it, after once […]
  • Pretty Muddy Race For Life 2019
    Massive thanks and congratulations to Sarah, Emily and Tara, who recently took part in the 10K Pretty Muddy Race for Life at Sefton Park, Liverpool. […]

Journal Publications

Recent Publications:

Mortality and Respiratory Support in X-linked Myotubular Myopathy: A RECENSUS Retrospective Analysis R J Graham et al (2019)

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal x-linked myotubular myopathy E Gayi et al (2018)

Tamoxifen therapy in a murine model of myotubular myopathy J Dowling et al (2018)

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy  Suzie Buono et al (2018)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy  Valérie Biancalana et al (2018)

Single intramuscular injection of AAV-shRNA reduces DNM2 and prevents myotubular myopathy in mice Tasfaout et al (2018)

Airways clearance techniques in neuromuscular disorders: a state of the art review Chatwin et al (2018)

A multicentre, retrospective medical record review of X linked myotubular myopathy: the RECENSUS study Beggs et al (2017)

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation Cowling et al (2017)

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues, Biancalana et al (2017)

Expression of the neuropathy-associated MTMR2 gene rescues MTM-associated myopathy, Raess et al (2017)

A natural history study of X linked myotubular myopathy Amburgey et al (2017)

Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs Buj-Bello and Childers (2017)

Progressive structural defects in canine centronuclear myopathy indicate a role for HACD1 in maintaining skeletal muscle membrane systems Walmsley et al (2017)

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models Dowling et al (2016)

Skeletal muscle pathology in X lined Myotubular Myopathy: review with cross-species comparisons Lawlor et al (2016)

A better molecular understanding of myotubular myopathy Haucke et al (2016)

Other Selected Publications:

Pathogenic mechanisms in centronuclear myopathies. Jungbluth and Gautel (2014)

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy Laporte et al (2014)

N-WASP is required for Amphiphysin 2/BIN1 dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy Gomes et al (2014)

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy Childers et al (2014)

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy Laporte et al (2013)

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy Lawlor et al (2013)

MTM1 mutation associated with XLMTM in Labrador Retrievers Beggs and Böhm et al (2013)

Next generation sequencing for molecular diagnosis of neuromuscular diseases Böhm and Le Gras et al (2012)

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models Dowling and Buj-Bello and Pierson et al (2012)

X linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10 Trump, Cullup et al (2012)

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice Lawlor et al (2012)

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies  Robb et al (2011)

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle  Laporte et al (2010)

Mutations in BIN1 distrupt interaction with DNM2 and cause autosomal recessive centronuclear myopathy J. Laporte et al (2007)

Mutations in DNM2 cause dominant centronuclear myopathy Laporte et al (2005)

X inactivation patterns in carriers of X linked myotubular myopathy Kristiansen et al (2003)

Genotype-phenotype correlations in X linked myotubular myopathy McEntegert et al (2002)

Medical complications in long-term survivors with X linked myotubular myopathy Herman et al (1999)

Thanks to the Authors for providing us with copies of their publications.


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