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myopathy, distal, with rimmed vacuoles

Disease Summary
Associated Targets (1)


Explore Associated Targets
Uniprot Description An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles.
Mondo Term and Equivalent IDs
MONDO:0014945:  myopathy, distal, with rimmed vacuoles
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found