| Symbol
| CMD1H
|
| Location
| 2q12.2
|
| HGNC id
| 2108
|
| Name
|
cardiomyopathy, dilated 1H |
| Corresponding gene
|
FHL2
|
| Main clinical features
|
ventricular dilation, impaired systolic function and conduction defect |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| cardiovascular |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| unknown
|
|
| associated with DCM. Because the mutation abrogated the interaction with titin/connectin, and the abnormal recruitment of metabolic enzymes to cardiac sarcomere would cause cardiomyopathy
| |