||500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC|
|Human Phenotype Ontology Project (HPO)
|Individuals reported having this disease
|Phenotype entries for this disease
|Associated with 2 genes
||Evidence that infantile hypertrophic cardiomyopathy can be caused by mutation in the overlapping MTATP6 (516060) and MTATP8 (516070) genes.|
▼ Molecular Genetics
In 4 unrelated infants who presented with isolated hypertrophic cardiomyopathy and congestive heart failure and who later developed severe feeding difficulties and failure to thrive, Ware et al. (2009) identified an 8528T-C transition, resulting in concurrent changes in the overlapping MTATP6 and MTATP8 genes, M1T (516060.0010) and W55R (516070.0003), respectively. Ware et al. (2009) stated that this was the first description of a mitochondrial mutation affecting both complex V genes.