| Disease ID | Source | Name | Description |
| 603511 | OMIM | Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) | An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. The disease is caused by variants affecting the gene represented in this entry. There is evidence that LGMDD1 is caused by dysfunction of isoform B (PubMed:22366786). |