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Heart to heart: from nuclearproteins to Emery-Dreifuss muscular dystrophy
- Source :
- Human Molecular Genetics. 8:1847-1851
- Publication Year :
- 1999
- Publisher :
- Oxford University Press (OUP), 1999.
-
Abstract
- Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questions are the subject of this review.
- Subjects :
- musculoskeletal diseases
Pathology
medicine.medical_specialty
Nuclear Envelope
Emerin
Thymopoietins
Biology
Bone and Bones
Genetics
medicine
Humans
Emery–Dreifuss muscular dystrophy
Nuclear protein
Nuclear membrane
Muscular dystrophy
Molecular Biology
Genetics (clinical)
Membrane Proteins
Nuclear Proteins
Heart
General Medicine
Anatomy
Lamin Type A
medicine.disease
Lamins
Muscular Dystrophy, Emery-Dreifuss
medicine.anatomical_structure
Membrane protein
Heart failure
Mutation
Lamin
Subjects
Details
- ISSN :
- 14602083
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....0c613fd1c78d45e6448ddc5888725c58