The Natural History of Centronuclear/Myotubular and other RYR1-related Myopathies

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Description:  This study is designed to explore the natural history of Centronuclear/Myotubular and other RYR1-related myopathies.  There are 5 parts to the study: a survey (hard copy or online), a family history, a physical exam (in our clinic or at a family conference), pulmonary function testing, and nerve conduction testing.  The survey and family history will be updated each year, the other parts of the study are optional.  We hope to learn more about these conditions and how they progress over time as well as help in creating a standard of care for patients and identify potential targets for therapies.

PI: James Dowling, MD, PhD

For information about this study, please visit our website or contact the study coordinator, Kim Amburgey.
Contact Information:
Address: University of Michigan
            300 North Ingalls Building – 5E02
            Ann Arbor, MI 48109
Phone: (734) 647-9224
Fax: (734) 232-9955
Email: kamburg@med.umich.edu
Website: http://sitemaker.umich.edu/dowling.lab/cnm_mtm_rm_natural_history_study

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Last revised 03-Jan-2012 by Steven Leber