All diseases

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ID     

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OMIM ID     

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Associated with genes

Associated tissues

Disease features
00570 500006 500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 500006 0 0 MT-ATP6, MT-ATP8 - 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.