MTM Links and Information
This is a compilation of the best sites on the web for MTM information and Research updates. If you have a website or article that you believe should be included, please email us and we will add it to this page!
Joshua Frase Foundation
The Frase family has been the driving force behind research for treatments. They have raised significant funds and worked tirelessly for the benefit of all with this disease.
Our European friends have been advancing ground breaking research through this wonderful organization. They are funding research and providing critical information to CNM-MTM families.
The MTM - CNM Family Connection This group organizes the U.S. conference for our CNM-MTM families. It is an amazing opportunity to meet other children, parents and researchers. This conference is held every two years and is a rewarding and informational experience.
ZNM - Zusammen Stark e. V.
Our friends in Germany have started this association and are doing great work providing information to families and funding research for myotubular myopathy.
The Information Point Centronuclear and Myotubular Myopathy
This is another great information source. Please view the Newsletters they publish online. The newsletter continually provides the most up to date happening throughout the world.
Genetics Home Reference
This is site is a great FAQ to understand X-linked Myotubular Myopathy.
U of C Genetic Services
The University of Chicago Genetic Services Laboratory offers state-of-the-art DNA diagnostic services under the direction of Soma Das Ph.D. The DNA diagnostic laboratory has a focus on testing of rare orphan genetic diseases for which testing is not readily available elsewhere.
This is a summary of the presentation on special considerations in the respiratory management of spinal muscular atrophy.
Equipment Options for Cough Augmentation
This is a summary of the presentation on equipment options for cough augmentation, ventilation, and noninvasive interfaces in neuromuscular respiratory management presented as part of the program on pulmonary management of pediatric patients with neuromuscular disorders at the 30th annual Carrell-Krusen Neuromuscular Symposium on February 20, 2008.
Journal of Child Neurology
Consensus Statement on Standard of Care for Congenital Myopathies.
Thanks to transatlantic collaboration, the products and approaches being developed at Genethon can be tested in a canine model of the disease developed by Wake Forest University, which will allow researchers to speed up the development of a gene therapy treatment for myotubular myopathy.
Congenital Muscle Disease International Registry (CMDIR)
The CMDIR is a global registry for individuals with congenital muscle disease (CMD). It is absolutely essential that everyone with a Congenital Muscle Disease register. In order to move forward with a clinical trial for a possible treatment for Myotubular Myopathy, individuals must be registered with the CMDIR so that researchers and government entities know how many are affected, who they are and the progression and severity of their condition. In short, the CMDIR is a key component to developing effective treatments for Myotubular Myopathy and all Congenital Muscle Diseases.