منابع مشابه
Genetics of inherited cardiomyopathy.
During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biol...
متن کاملGenetics of inherited human epilepsies
Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosi...
متن کاملGenetics of inherited platelet disorders.
The current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury. The inherited platelet disorders can be classified according to their platelet defects: receptor/cytoskeleton defects, secretion disorder, and signal...
متن کاملGenetics of dilated cardiomyopathy
ilated cardiomyopathy (DCM), characterized by left venricular dilation and systolic dysfunction, is the most comon form of heart muscle disease, comprising 60% of the ases of identified cardiomyopathies (1). The disorder is linically heterogeneous, ranging from affected individuals ith clinical presentations of severe symptoms, including eart failure, sudden death, or resuscitated sudden death,...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Heart Journal
سال: 2011
ISSN: 0195-668X,1522-9645
DOI: 10.1093/eurheartj/ehr260