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Myopathy caused by variation in FKRP

MONDO:0700066

Any myopathy in which the cause of the disease is a variation in the FKRP gene.

Also known as: FKRP myopathy, FKRP-related myopathy, myopathy caused by mutation in FKRP

10 clinical trials for this condition and its sub-types, 0 tagged with Myopathy caused by variation in FKRP itself.

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↑ Myopathy (990) ↑ Hereditary skeletal muscle disorder (406) ↑ Disorder of protein O-glycosylation (13)

Sub-types of Myopathy caused by variation in FKRP

  • Autosomal recessive limb-girdle muscular dystrophy type 2I 8 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 trials
  • Muscular dystrophy-dystroglycanopathy type B5 0 trials
Including sub-types (10) Tagged with Myopathy caused by variation in FKRP (0)
Trials to join now! 3 Not yet finished but already full! 6 Completed 1
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  • New study tracks muscle decline in rare disease to guide future treatments

    Knowledge-focused Completed

    This study followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …

    Sponsor: Genethon • Aim: Knowledge-focused

    Last updated Jun 27, 2026 09:04 UTC

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