| p.R155H | The most frequent mutation, accounting for ~50% of cases |
| p.R155P**, **p.R155C | Other common R155 variants |
| p.A232G | Associated with predominantly myopathic phenotype |
| p.D592N | Less severe phenotype |
| Mitophagy | Selective degradation of damaged mitochondria |
| DNA damage response | Chromatin remodeling and repair factor recruitment |
| Cell cycle regulation | Mitotic spindle assembly and sister chromatid separation |
| Progressive muscle weakness | Affects proximal muscles first, particularly hip girdle muscles |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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