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GTR Home > Tests > X-Linked Myotubular Myopathy


Purpose of the test


Contribute to generalizable knowledge

Study basics

NameHelpBeggs Laboratory Congenital Myopathy Research Program (Beggs Lab)
IdentifierHelpNCT00272883 on ClinicalTrials.gov
Study typeHelpObservational study

Description of study


Study of the congenital myopathies, including nemaline myopathy, centronuclear/myotubular myopathy, multiminicore myopathy/rigid spine muscular dystrophy, and undefined or nonspecific congenital myopathies. Focus on identifying the genes and proteins involved in these conditions, as well as in normal muscle functioning. Seek participation of families with congenital myopathies, including affected individuals and first degree relatives. Participation of affected individuals generally involves providing medical records/information, a blood or saliva sample, and a muscle tissue sample (if available). Participation of relatives involves providing a blood or saliva sample. Referral to a clinical molecular diagnostic laboratory can be arranged for confirmation and reporting of clinically relevant research results.

  • Study protocol numberHelp: 03-08-128R


Person responsible for the studyHelpAlan Beggs, PhD, Lab Director
Study contactHelpCasie Genetti, MS, Certified Genetic counselor, CGC, Genetic Counselor, BeggsLabGC@childrens.harvard.edu, 6179192169 (phone), 617-730-0786 (fax)

Research contact policy


Laboratory welcomes contact from clinicians and patients/families interested in participating in a research study for this condition.

Suggested reading

  • Frase, 2016
    Dream On: The Pursuit to Cure Myotubular Myopathy Born out of a Mother's Vision

Practice guidelines

  • EuroGenetest, 2012
    Clinical utility gene card for: Centronuclear and myotubular myopathies.

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