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: 24 Sep 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 24 Sep 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 12 free, full-text research articles on human participants. First 3 results:

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

Go To URL
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

Go To URL
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
 

Author(s): Alan H Beggs, Johann Böhm, Elizabeth Snead, Marek Kozlowski, Marie Maurer, Katie Minor, Martin K Childers, Susan M Taylor, Christophe Hitte, James R Mickelson, Ling T Guo, Andrew P Mizisin, Anna Buj-Bello, Laurent Tiret, Jocelyn Laporte, G Diane Shelton

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2010 Aug;107(33):14697-702.

 

Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male Labrador Retrievers, age 14-26 wk, were clinically evaluated for generalized weakness and muscle atrophy. Muscle biopsies ...

Last Updated: 18 Aug 2010

Go To URL

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 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 12 Nov 2014

Go to URL
Myotubular Myopathy Genetic Testing Study
 

Status: Recruiting

Condition Summary: Myotubular Myopathy

 

Last Updated: 28 Jan 2014

Go to URL

Last Updated: 11 Sep 2014

Go to URL