Emery‐Dreifuss syndrome: Genetic and clinical varieties

Rudenskaya, G. E.; Гинтер, Е. К.; Petrin, A. N.; Djomina, N. A.

doi:10.1002/ajmg.1320500304

Cited by 16 publications

(2 citation statements)

References 24 publications

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“…B) THE AUTOSOMAL DOMINANT EDMD (AD-EDMD). During the 1970s and the 1980s, several authors reported families where the EDMD phenotype appeared to be transmitted as an autosomal trait (54,259,288,317,329,400). This was confirmed soon after the identification of the emerin defect in the XL-EDMD.…”

Section: Emery-dreifuss Muscular Dystrophymentioning

confidence: 92%

Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

Broers¹,

Ramaekers²,

Bonne³

et al. 2006

Physiological Reviews

506

526

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It has been demonstrated that nuclear lamins are important proteins in maintaining cellular as well as nuclear integrity, and in maintaining chromatin organization in the nucleus. Moreover, there is growing evidence that lamins play a prominent role in transcriptional control. The family of laminopathies is a fast-growing group of diseases caused by abnormalities in the structure or processing of the lamin A/C (LMNA) gene. Mutations or incorrect processing cause more than a dozen different inherited diseases, ranging from striated muscular diseases, via fat- and peripheral nerve cell diseases, to progeria. This broad spectrum of diseases can only be explained if the responsible A-type lamin proteins perform multiple functions in normal cells. This review gives an overview of current knowledge on lamin structure and function and all known diseases associated with LMNA abnormalities. Based on the knowledge of the different functions of A-type lamins and associated proteins, explanations for the observed phenotypes are postulated. It is concluded that lamins seem to be key players in, among others, controlling the process of cellular ageing, since disturbance in lamin protein structure gives rise to several forms of premature ageing.

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Section: Emery-dreifuss Muscular Dystrophymentioning

confidence: 92%

Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

Broers¹,

Ramaekers²,

Bonne³

et al. 2006

Physiological Reviews

506

526

View full text Add to dashboard Cite

show abstract

“…Therefore, we do not present mutation-negative cases, although in some of them, laminopathy seemed highly probable prior to DNA testing. Thus, LMNA mutation was not found in an earlier reported P family with phenotype of EDMD (24). In part, it may be due to the method's limitations but also may point to existence of other genes producing similar disorders.…”

Section: Discussionmentioning

confidence: 75%

Laminopathies in Russian families

et al. 2008

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Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 different mutations were identified: Asp47His, Gly232Arg, c.[781_783delAAG, 781insGTGGAGCAGTATAAGAAA], Arg249Gln (in two families), Arg377His, Arg541His, Ala350Pro, Leu52Pro, and Gly635Asp. Mutations Arg249Gln, Arg377His, and Arg541His were reported previously, others are novel. Four cases present de novo mutations, among them two cases with Arg249Gln are found. Because this mutation occurred de novo also in other reported cases, a mutational 'hot spot' was supposed. Three phenotypes were observed: autosomal dominant (AD) Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle MD type 1B, and AD dilated cardiomyopathy with conduction defect type 1A (DCM1A). Atypical clinical presentations were a very severe EDMD and an infantile DCM1A.

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Emery-Dreifuss Muscular Dystrophy

Merlini

Maraldi

2013

Neuromuscular Disorders in Clinical Practice

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Emery‐Dreifuss syndrome: Genetic and clinical varieties

Cited by 16 publications

References 24 publications

Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

Laminopathies in Russian families

Emery-Dreifuss Muscular Dystrophy

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