Clinical and genetic characteristics of hereditary laminopathies

Abstract

Naminopathies belong to a wide allelic series of diseases caused by mutations of one gene, LMNA, encoding for protein lamin A/C. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive EmeryDreifuss muscular dystrophy, dilated cardiomyopathy 1A, familial partial lipodystrophy, atypical Werners syndrome, HutchinsonGilford progeria and motor-sensory neuropathy type 2B1. In the review, the lamin structure and functions, clinical characteristics of hereditarylaminopathies, their etiology, pathogenesis and molecularbases are discussed.

Keywords

• lamins
• laminopathies
• etiology
• pathogenesis
• clinical-genetic characteristics