Muscular Dystrophy, Limb-Girdle, Type 2r malady
Categories: Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Metabolic diseases
Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2r:
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Muscle diseases, Neuronal diseases
UniProtKB/Swiss-Prot:67 Limb-girdle muscular dystrophy 2R: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2r, also known as limb-girdle muscular dystrophy 2r, is related to autosomal recessive limb-girdle muscular dystrophy type 2r, and has symptoms including elbow flexion contracture, muscular dystrophy and scapular winging. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (Desmin).
Description from OMIM:49 615325
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2r.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet