Genomic coordinate (human 12:110,910,845 MYL2).
Cytoband (human 12q24.11 MYL2).
Intraband %= 85.6%
Here I 🎁 present: “MYL2 Pleiotropy“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MYL2)
Gene: MYL2
Location: 12q24.11
System: Sarcomeric / contractile apparatus
Primary pleiotropic disorders:
Hypertrophic Cardiomyopathy 10 (HCM10)
Dominant missense pathway
Principal cell: hypertrophied ventricular cardiomyocyte with myofiber disarray
Myofibrillar Myopathy 12 (MFM12)
Recessive null pathway
Principal cells: skeletal muscle fiber plus cardiomyocyte
Severe infantile cardioskeletal phenotype
Catastrophe interpretation:
State A: normal sarcomere
State B1: cardiomyocyte hypertrophic attractor (HCM10)
State B2: cardioskeletal disintegration attractor (MFM12)
Fold line: bifurcation between stable contractile states
Cell-manifold assignment:
Ch → ventricular cardiomyocyte → HCM10
Ci + Ch → skeletal and cardiac muscle → MFM12
