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.
Clinical and genetic characteristics of hereditary laminopathies
- Authors: Dadaly E.L.1, Bileva D.S.2, Ugarov I.V.3
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Affiliations:
- Research Centre for Medical Genetics
- Department of Genetics, Medical-Biologic Faculty, Russian State Medical University
- Research Center for Medical Genetics, Russian Academy of Medical Sciences
- Issue: Vol 2, No 4 (2008)
- Pages: 28-33
- Section: Reviews
- Submitted: 07.02.2017
- Published: 14.02.2017
- URL: https://annaly-nevrologii.com/journal/pathID/article/view/389
- DOI: https://doi.org/10.17816/psaic389
- ID: 389
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Abstract
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
Russian Federation, 115522, Russia, Moscow, Moskvorechie str., 1.D. S. Bileva
Department of Genetics, Medical-Biologic Faculty, Russian State Medical University
Email: platonova@neurology.ru
Russian Federation, Moscow
I. V. Ugarov
Research Center for Medical Genetics, Russian Academy of Medical Sciences
Author for correspondence.
Email: platonova@neurology.ru
Russian Federation, Moscow
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