| Symbol
| CMD1P
|
| Location
| 6q22
|
| Name
|
cardiomyopathy dilated or hypertrophic, 1P |
| Corresponding gene
|
PLN
|
| Main clinical features
|
by middle age, left ventricular dilation, contractile dysfunction, and episodic ventricular arrhythmias, with hypertrophic cardiomyopathy and overt heart failure |
| Genetic determination
| autosomal dominant |
| Related entries
| including CMH18 (OMIM 613874)
|
| Function/system disorder
| cardiovascular |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| deletion
|
| abnormal protein/loss of function
| of arginine 14 in coding region, suppressing basal SERCA2A activity
| | missense
|
| abnormal protein/gain of function
| R975W metaVCL mutation located in a conserved tail region , predicted to cause significant alteration in the secondary structure and helical organization of the protein
| |
| Remark(s)
|
203A>C genetic variant in the PLN promoter may contribute to depressed contractility and accelerate functional deterioration in heart failure |