Emery-Dreifuss muscular dystrophy, autosomal recessive (Q90656): Difference between revisions
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Revision as of 17:38, 15 August 2026
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.
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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. |
