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autosomal recessive limb-girdle muscular dystrophy type 2X
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
Uniprot Description A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2X patients also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life.
Disease Ontology Description An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
Mondo Term and Equivalent IDs
MONDO:0014782: autosomal recessive limb-girdle muscular dystrophy type 2X
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Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110290
OMIM:616812
Orphanet:476084
UMLS:C4225199
MONDO:0014782
High level summary of knowledge for a disease, including descriptions and datasource references.