PMID: 15367859Sep 16, 2004Paper

Laminopathies: from the heart of the cell to the clinics

Current Opinion in Neurology
Sara Benedetti, L Merlini

Abstract

This review outlines recent advances in the clinical, genetic and molecular aspects of laminopathies, an expanding group of disorders caused by mutations of the lamin A/C gene. Mutations in lamin A/C were originally described in skeletal and cardiac muscle disorders. It has subsequently been shown that partial lipodystrophy syndromes with or without developmental abnormalities and premature ageing are also associated with lamin A/C alterations. Concomitantly, peripheral nerve involvement with autosomal recessive and dominant inheritance is adding to the picture. The clinical heterogeneity of laminopathies ranges from intrafamilial variability to the description of overlapping phenotypes. A large variability in clinical presentation and the course of cardiomyopathy occurs, including sudden death despite pacemaker implant and embolic stroke in young patients. Similarly, premature ageing syndromes encompass classic and atypical forms of varying severity with the involvement of diverse tissues. In addition, an association of myopathic and neuropathic phenotypes is now emerging. Advances in molecular genetics of apparently unrelated disorders, involving muscle, heart, nerve, fat, bone, liver, skin tissues and premature ageing, have ...Continue Reading

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