Emery-Dreifuss muscular dystrophy, autosomal recessive (Q90656): Difference between revisions

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Latest 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
default for all languages	ID_693767720
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.