| Progressive muscle weakness | Typically proximal, affecting shoulder and hip muscles |
| Exercise intolerance | Early fatigue disproportionate to activity level |
| Muscle fatigue | Persistent tiredness, especially after exertion |
| Cramping | Muscle cramps, particularly after exercise |
| Myalgia | Muscle pain and tenderness |
| Ptosis | Drooping eyelids, often bilateral |
| External ophthalmoplegia | Limited eye movements, particularly upward gaze |
| Facial weakness | Difficulty with facial expressions |
| Dysphagia | Difficulty swallowing in some cases |
| Respiratory weakness | Risk of respiratory insufficiency in severe cases |
| Cardiomyopathy | Hypertrophic or dilated cardiomyopathy |
| Cardiac conduction defects | Arrhythmias, heart block |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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