Journal Article

Heart to Heart: From Nuclear Proteins to Emery-Dreifuss Muscular Dystrophy

Glenn E. Morris and Sushila Manilal

in Human Molecular Genetics

Volume 8, issue 10, pages 1847-1851
Published in print January 1999 | ISSN: 0964-6906
Published online January 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.10.1847
Heart to Heart: From Nuclear Proteins to Emery-Dreifuss Muscular Dystrophy

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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.

Journal Article.  4921 words.  Illustrated.

Subjects: Genetics and Genomics

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