The term "cardi- omyopathy" means a disease of heart muscle (cardio, heart; myo, muscle; pathy, disease). Hypertrophy, in general, is recognized as a compensatory thickening of the left ven- tricle wall that occurs as a physiologic response to either excessive hemodynamic burden (such as ...
Present work is the first large-scale study of targeted sequencing of tandem repeats as a means to improve diagnosis of an inherited disease. Future application of the described assay in a large number of cases will allow to evaluate the general contribution of tandem repeat instability to XLID...
specific function and/or ligand binding sequences, of significance to its structural role in the basement membrane. Although there are many possible combinations among the six alpha chains, only three are biologically compatible and found in basement membranes. These are composed of α1α1α2, α...