RecruitingNCT05102799

MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

Sponsor

Rigshospitalet, Denmark

Enrollment

200 participants

Start Date

Apr 1, 2021

Study Type

OBSERVATIONAL

Conditions

Limb Girdle Muscular Dystrophy

Summary

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.

Eligibility

Inclusion Criteria2

Two pathogenic variants in the anoctamin-5 gene
T1-weighted MR-images of lower back and leg muscles.

Exclusion Criteria1

\- Concomitant other disorders that also can result in muscular atrophy, i.e. polyneuropathy, other muscle diseases, recent long-term stay in intensive care, among others.

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