Laminopathies: multisystem dystrophy syndromes

KN Jacob, A Garg - Molecular genetics and metabolism, 2006 - Elsevier
Laminopathies are a heterogeneous group of genetic disorders due to abnormalities in type
A lamins and can manifest varied clinical features affecting many organs including the
skeletal and cardiac muscle, adipose tissue, nervous system, cutaneous tissue, and bone.
Mutations in the gene encoding lamins A and C (LMNA) cause primary laminopathies,
including various types of lipodystrophies, muscular dystrophies and progeroid syndromes,
mandibuloacral dysplasia, dilated cardiomyopathies, and restrictive dermopathy. The …