Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Jan 1;9(1):268-274.
doi: 10.1080/19491034.2018.1462635.

Clinical aspects of Emery-Dreifuss muscular dystrophy

Agnieszka Madej-Pilarczyk  1
Affiliations
Review

Clinical aspects of Emery-Dreifuss muscular dystrophy

Agnieszka Madej-Pilarczyk. Nucleus. .

Abstract

Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. This paper presents clinical aspects of EDMD in context to causative genes, genotype-phenotype correlation and its emplacement within phenotypic spectrum of skeletal muscle diseases associated with envelopathies.

Keywords: Emery-Dreifuss muscular dystrophy; cardiomyopathy; emerin; lamin A/C; laminopathy.

PubMed Disclaimer

References

    1. Dauer WT, Worman HJ. The nuclear envelope as a signaling node in development and disease. Dev Cell. 2009;17:626–38. - PubMed
    1. Worman HJ, Bonne G. “Laminopathies”: a wide spectrum of human diseases. Exp Cell Res. 2007;313:2121–33. - PMC - PubMed
    1. T1 Shimi, K Pfleghaar, Kojima S, et al.. The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription. Genes Dev. 2008;22:3409–21. - PMC - PubMed
    1. Gruenbaum Y, Foisner R. Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation. Annu Rev Biochem. 2015;84:131–64. - PubMed
    1. Lin F, Blake DL, Callebaut I, et al.. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. J Biol Chem. 2000;275:4840–7. - PubMed

LinkOut - more resources