Is a newly created splice donor site in exon 25 of the MyBP-C gene responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance?
Penetrance of this mutation was incomplete and age-dependent. The large number of asymptomatic carriers and the good prognosis support the interpretation of benign disease.
A total of 273 cases of biopsy-proven ischemic colitis were identified of which 71 (26.0%) involved only the right side. Patients with IRCI had a worse outcome than those with colon ischemia involving other colon regions, including a fivefold need for surgery and a twofold mortality.