Disease ID | Source | Name | Description |
608099 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) | An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. The disease is caused by variants affecting the gene represented in this entry. |