In the 2000s, through pedigree linkage analysis, homozygous truncating mutations in the junction plakoglobin (JUP) and desmoplakin (DSP) genes were identified in parallel to cause ACM that overlaps with cardio-cutaneous syndromes, representing the first two genetic studies to recognize ACM as an inheritable type of cardiomyopathy [4,5]. The gene discussed is DSP; the disease is Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type.