| Typical Onset | Progressive limb-girdle weakness, initially affecting the hip girdle and quadriceps |
| N-terminal domain (N-domain) | Mediates interactions with cofactors and adaptors (e.g., p47, Ufd1-Npl4, UBXD1) |
| D1 ATPase domain | First AAA+ domain; primarily involved in hexamer assembly |
| D1-D2 linker | Connects the two ATPase domains |
| D2 ATPase domain | Primary source of ATP hydrolysis and mechanical force generation |
| C-terminal tail | Contains regulatory phosphorylation sites |
| R155H | The most common mutation, accounting for ~50% of reported families |
| R155C, R155P, R155S | Other substitutions at the R155 hotspot |
| R191Q | Second most common mutation |
| A232E | Located in the D1-D2 linker |
| Rare mutations | In the D1 and D2 domains (e.g., N387H, A439S, D592N) |
| Myopathy | ~90% penetrance by age 50 |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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