Clinical and genetic characteristics of hereditary laminopathies

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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 Emery–Dreifuss muscular dystrophy, dilated cardiomyopathy 1A, familial partial lipodystrophy, atypical Werner’s syndrome, Hutchinson–Gilford progeria and motor-sensory neuropathy type 2B1. In the review, the lamin structure and functions, clinical characteristics of hereditary  laminopathies, their etiology, pathogenesis and molecular bases are discussed.

 
 

About the authors

Elena L. Dadaly

Research Centre for Medical Genetics

Email: platonova@neurology.ru
ORCID iD: 0000-0001-5602-2805

D. Sci. (Med.), Prof., Head, Scientific advisory department

Россия, 115522, Russia, Moscow, Moskvorechie str., 1.

D. S. Bileva

Department of Genetics, Medical-Biologic Faculty, Russian State Medical University

Email: platonova@neurology.ru
Россия, Moscow

I. V. Ugarov

Research Center for Medical Genetics, Russian Academy of Medical Sciences

Author for correspondence.
Email: platonova@neurology.ru
Россия, Moscow

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Copyright (c) 2008 Dadaly E.L., Bileva D.S., Ugarov I.V.

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