Disease - Oculopharyngodistal myopathy 1
- DefinitionA form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant.
- AcronymOPDM1
- Alternative names
- Cross references
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- Low-density lipoprotein receptor-related protein 12 · Gene: LRP12 (ST7) · Homo sapiens (Human) · 859 amino acids · Evidence at protein level · Annotation score: 5/5