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Clinical aspects of Emery-Dreifuss muscular dystrophy.

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.

SUBMITTER: Madej-Pilarczyk A

PROVIDER: S-EPMC5973255 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Clinical aspects of Emery-Dreifuss muscular dystrophy.

Madej-Pilarczyk Agnieszka A

Nucleus (Austin, Tex.) 20180101 1

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 ...[more]

PMID: 29633897

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