Are stop-gain mutations in PKP2 associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy?
Familial genetic analysis helps to identify the cause responsible for the pathology. In discrepancy with previous studies, the presence of a truncating protein does not confer a worse severity. This information could suggest that truncating proteins may be compensated by the normal allele and that missense mutations may act as poison peptides.
Surgery improved clinical and neurologic status according to Frankel score; patients with neoplastic pachymeningitis are likely to experience less neurologic recovery.