Emery-Dreifuss muscular dystrophy, autosomal recessive (Q90656)
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Autosomal recessive Emery-Dreifuss muscular dystrophy is clinically characterised by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias. It is caused by homozygous mutation in the LMNA gene on chromosome 1q21.
| Language | Label | Description | Also known as |
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| default for all languages | ID_693767720 |
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| English | Emery-Dreifuss muscular dystrophy, autosomal recessive |
Autosomal recessive Emery-Dreifuss muscular dystrophy is clinically characterised by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias. It is caused by homozygous mutation in the LMNA gene on chromosome 1q21. |
