| Frameshift/nonsense mutations | ~60-70% of cases, cause premature stop codons |
| Large deletions | ~60-70% of cases, typically involve one or more exons |
| Duplications | ~10-15% of cases |
| Small mutations | ~20-25% of cases (missense, splice site, small deletions) |
| Sarcolemmal dysfunction | Reduced neuronal nitric oxide synthase (nNOS) localization |
| Mitochondrial abnormalities | Energy production deficits |
| Satellite cell exhaustion | Impaired muscle regeneration capacity |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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