| Disease ID | Source | Name | Description |
| 606768 | OMIM | Distal myopathy with anterior tibial onset (DMAT) | Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 254130 | OMIM | Miyoshi muscular dystrophy 1 (MMD1) | A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. The disease is caused by variants affecting the gene represented in this entry. |
| 253601 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) | An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. The disease is caused by variants affecting the gene represented in this entry. |