Therefore, our findings clearly demonstrate why mutant mitochondrial tRNATrp is able to cause severe COX deficiency as one of common clinical phenotypes.
These insights have led many authorities to hypothesize that OA is best thought of as a group of disorders with varied etiologies whose final common clinical phenotypes converge [ 3].
Preliminary results suggest that among long-term survivors of vertically-acquired HIV, this might be a common clinical HPV phenotype.
The most prominent clinical phenotype common to these families is progressive weakness and spasticity, affecting the lower extremities, plus or minus the upper extremities.
MED is a genetically heterogeneous group of diseases sharing common radiologic and clinical phenotypes.
Patients meeting the Berlin definition for the acute respiratory distress syndrome (ARDS) might lack exposure to one or more "common" risk factors and exhibit different clinical phenotype and outcomes.
In conclusion, our data suggest that CF patients bearing the A561E mutation, which is associated with a severe clinical phenotype and quite common in some countries (Mendes et al., 2003), can potentially benefit from lumacaftor treatment.
Indeed, recent reports suggest that rare genetic variants can drive a pronounced clinical phenotype, and are more likely than common variants to have a deleterious effect on a protein coding sequence and potentially cause a disease [ 34].
