Emery-Dreifuss muscular dystrophy, autosomal dominant (Q90659): Difference between revisions
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A distrofia muscular autossômica dominante de Emery-Dreifuss é uma das várias doenças alélicas causadas por mutações nas proteínas da lâmina nuclear, lâminas A e C. A doença é caracterizada pelo início precoce de fraqueza do músculo esquelético e contraturas articulares e, posteriormente, por cardiomiopatia dilatada e arritmias cardíacas. Embora a fisiopatologia não seja compreendida, uma teoria sugere que a organização estrutural desordenada em núcleos enfraquecidos em células contráteis pode ser a base da doença. | |||
| description / en | description / en | ||
Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and joint contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease. | |||
Revision as of 17:38, 15 August 2026
Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and joint contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease.
| Language | Label | Description | Also known as |
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| default for all languages | ID_15480497 |
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| English | Emery-Dreifuss muscular dystrophy, autosomal dominant |
Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and joint contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease. |
