X-linked myotubular myopathy

Common Name(s)

X-linked myotubular myopathy, XLMTM

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked myotubular myopathy" for support, advocacy or research.

Joshua Frase Foundation

The Joshua Frase Foundation is dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies.

Last Updated: 23 May 2016

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked myotubular myopathy" for support, advocacy or research.

Joshua Frase Foundation

The Joshua Frase Foundation is dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies.

http://www.joshuafrase.org

Last Updated: 23 May 2016

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked myotubular myopathy" returned 14 free, full-text research articles on human participants. First 3 results:

A natural history study of X-linked myotubular myopathy.
 

Author(s): Kimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, Michael Glueck, Rachel Alverez, Cam-Tu Nguyen, Anne Rutkowski, Joseph Hornyak, Alan H Beggs, James J Dowling

Journal: Neurology. 2017 Sep;89(13):1355-1364.

 

To define the natural history of X-linked myotubular myopathy (MTM).

Last Updated: 26 Aug 2017

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Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
 

Author(s): Michael W Lawlor, Dustin Armstrong, Marissa G Viola, Jeffrey J Widrick, Hui Meng, Robert W Grange, Martin K Childers, Cynthia P Hsu, Michael O'Callaghan, Christopher R Pierson, Anna Buj-Bello, Alan H Beggs

Journal: Hum. Mol. Genet.. 2013 Apr;22(8):1525-38.

 

No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. The Mtm1δ4 and Mtm1 p.R69C mice model severely and moderately symptomatic XLMTM, respectively, due ...

Last Updated: 25 Mar 2013

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X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
 

Author(s): Ji Hyun Jeon, Ran Namgung, Min Soo Park, Kook In Park, Chul Lee, Jin Sung Lee, Se Hoon Kim

Journal: Yonsei Med. J.. 2011 May;52(3):547-50.

 

X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe ...

Last Updated: 13 Apr 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked myotubular myopathy" returned 1 free, full-text review articles on human participants. First 3 results:

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
 

Author(s): Michael W Lawlor, Alan H Beggs, Ana Buj-Bello, Martin K Childers, James J Dowling, Emma S James, Hui Meng, Steven A Moore, Suyash Prasad, Benedikt Schoser, Caroline A Sewry

Journal: J. Neuropathol. Exp. Neurol.. 2016 Feb;75(2):102-10.

 

X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin. This leads to severe perinatal weakness and distinctive muscle pathology. It was originally thought ...

Last Updated: 2 Aug 2016

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Transfer Clinical Study in X-Linked Myotubular Myopathy
 

Status: Recruiting

Condition Summary: X-Linked Myotubular Myopathy

 

Last Updated: 25 Oct 2017

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A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
 

Status: Recruiting

Condition Summary: Males With X-linked Myotubular Myopathy (XLMTM)

 

Last Updated: 31 Jan 2017

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Myotubular Myopathy Genetic Testing Study
 

Status: Recruiting

Condition Summary: Myotubular Myopathy

 

Last Updated: 25 Jul 2016

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