Clinical aspects of Emery-Dreifuss muscular dystrophy

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 nuc...

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Autor principal: Madej-Pilarczyk, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
Materias:
Laminopathies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973255/
https://www.ncbi.nlm.nih.gov/pubmed/29633897
http://dx.doi.org/10.1080/19491034.2018.1462635
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author Madej-Pilarczyk, Agnieszka
author_facet Madej-Pilarczyk, Agnieszka
author_sort Madej-Pilarczyk, Agnieszka
collection PubMed
description 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.
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spelling pubmed-59732552018-05-31 Clinical aspects of Emery-Dreifuss muscular dystrophy Madej-Pilarczyk, Agnieszka Nucleus Laminopathies 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. Taylor & Francis 2018-04-10 /pmc/articles/PMC5973255/ /pubmed/29633897 http://dx.doi.org/10.1080/19491034.2018.1462635 Text en © 2018 The Author. Published by Informa UK Limited, trading as Taylor & Francis Group http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Laminopathies
Madej-Pilarczyk, Agnieszka
Clinical aspects of Emery-Dreifuss muscular dystrophy
title Clinical aspects of Emery-Dreifuss muscular dystrophy
title_full Clinical aspects of Emery-Dreifuss muscular dystrophy
title_fullStr Clinical aspects of Emery-Dreifuss muscular dystrophy
title_full_unstemmed Clinical aspects of Emery-Dreifuss muscular dystrophy
title_short Clinical aspects of Emery-Dreifuss muscular dystrophy
title_sort clinical aspects of emery-dreifuss muscular dystrophy
topic Laminopathies
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973255/
https://www.ncbi.nlm.nih.gov/pubmed/29633897
http://dx.doi.org/10.1080/19491034.2018.1462635
work_keys_str_mv AT madejpilarczykagnieszka clinicalaspectsofemerydreifussmusculardystrophy

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