Emery-Dreifuss muscular dystrophy, autosomal recessive (Q90656): Difference between revisions
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A distrofia muscular autossômica recessiva de Emery-Dreifuss é clinicamente caracterizada pela tríade de fraqueza dos músculos do ombro e cintura pélvica, contraturas dos cotovelos, pescoço e tendão de Aquiles e envolvimento cardíaco, mais comumente arritmias. É causada por mutação homozigótica no gene LMNA no cromossomo 1q21. | |||
| description / en | description / en | ||
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. | |||
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.
| 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. |
