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Gene hunt for rare muscle diseases seeks 4,000 volunteers

NCT ID NCT00272883

First seen Mar 27, 2026 · Last updated May 24, 2026 · Updated 8 times

Summary

This study aims to find the genes that cause congenital myopathies, a group of muscle diseases present from birth. Researchers will analyze DNA from up to 4,000 people with these conditions and their family members. The goal is to improve diagnosis and pave the way for future treatments.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Genetics Division, Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.