MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
ConditionLimb Girdle Muscular Dystrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorRigshospitalet, Denmark
A large cohort of MRI scans from patients with pathogenic variants in the anoctamin 5 gene will be collected through an international collaboration to better describe muscle involvement.
Two pathogenic variants in the anoctamin-5 gene
T1-weighted MR-images of lower back and leg muscles.
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