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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Bone and Bones / pathology
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Bone and Bones / physiopathology*
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Heart / physiopathology*
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Humans
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Lamin Type A
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Lamins
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Muscular Dystrophy, Emery-Dreifuss / genetics
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Muscular Dystrophy, Emery-Dreifuss / metabolism
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Muscular Dystrophy, Emery-Dreifuss / pathology*
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Muscular Dystrophy, Emery-Dreifuss / physiopathology*
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Mutation / genetics
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Nuclear Envelope / chemistry
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Nuclear Envelope / metabolism
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism*
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Thymopoietins / genetics
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Thymopoietins / metabolism
Substances
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Lamin Type A
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Lamins
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Membrane Proteins
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Nuclear Proteins
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Thymopoietins
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emerin