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Limb-girdle muscular dystrophy 1A

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant degenerative myopathy with onset within a mean age of 28 years. Characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.
DataSource References
UniProt Disease:  OMIM:159000