Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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Description

Emery-Dreifuss muscular dystrophy is characterized classically 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 (summary by Jimenez-Escrig et al., 2012). For a discussion of genetic heterogeneity of EDMD, see 310300.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

Genes

External Links

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