Scientists hunt genetic clues to mysterious muscle diseases
NCT ID NCT00272883
Summary
This research study aims to identify the genetic causes of congenital myopathies—rare muscle disorders present from birth. Researchers at Boston Children's Hospital are collecting medical records and DNA samples from 4,000 affected individuals and their family members worldwide. The goal is to understand how specific genetic mutations lead to muscle weakness, which could improve future diagnosis and treatment approaches.
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Study contacts
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Contact
Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Genetics Division, Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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