Genetics of Cardiovascular and Neuromuscular Disease
| Status: | Recruiting |
|---|---|
| Conditions: | Cardiology, Neurology |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | September 1996 |
| Contact: | Lisa Dellefave, MS |
| Email: | Ldellefa@medicine.bsd.uchicago.edu |
| Phone: | 773-702-4310 |
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
We are studying the genetics of human cardiovascular and neuromuscular disease. There are
many different genetic regions that have been associated with the development of
cardiomyopathy. An equal number of genetic regions have been associated with muscular
dystrophy and there is overlap because some of the identical genes, when mutated, produce
both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene
mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to
screen these samples for mutations in genes known to be involved in these disorders.
many different genetic regions that have been associated with the development of
cardiomyopathy. An equal number of genetic regions have been associated with muscular
dystrophy and there is overlap because some of the identical genes, when mutated, produce
both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene
mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to
screen these samples for mutations in genes known to be involved in these disorders.
Inclusion Criteria:
- Patients of all ages will be considered for the study. In particular, families with
more than one affected relative will be sought.
Exclusion Criteria:
- Subjects without a suspected inherited cardiovascular or neuromuscular disorder will
be excluded from this study.
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