Emery–Dreifuss muscular dystrophy
M Puckelwartz - Handbook of clinical neurology, 2011 - Elsevier
Emery–Dreifuss muscular dystrophy (EDMD) is a progressive muscle-wasting disorder
defined by early contractures of the Achilles tendon, spine, and elbows. EDMD is also
distinctive for its association with defects of the cardiac conduction system that can result in
sudden death. It can be inherited in an X-linked, autosomal dominant, or autosomal
recessive fashion and is caused by mutations in proteins of the nuclear membrane.
Mutations in the EMD gene, which encodes emerin, a transmembrane protein found at the …
defined by early contractures of the Achilles tendon, spine, and elbows. EDMD is also
distinctive for its association with defects of the cardiac conduction system that can result in
sudden death. It can be inherited in an X-linked, autosomal dominant, or autosomal
recessive fashion and is caused by mutations in proteins of the nuclear membrane.
Mutations in the EMD gene, which encodes emerin, a transmembrane protein found at the …