-
Emery-Dreifuss syndrome.
Medical School, University of Edinburgh.
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation 'Emery-Dreifuss syndrome' be used for this triad of symptoms and signs.
PMID: 2685312 [PubMed - indexed for MEDLINE]
PMCID: PMC1015715
-
Cited by 7 PubMed Central articles
-
Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.
Ozawa R, Hayashi YK, Ogawa M, Kurokawa R, Matsumoto H, Noguchi S, Nonaka I, Nishino I.
Am J Pathol. 2006 Mar; 168(3):907-17.
[Am J Pathol. 2006]
-
ReviewMultiple pathogenetic mechanisms in X linked dilated cardiomyopathy.
Cohen N, Muntoni F.
Heart. 2004 Aug; 90(8):835-41.
[Heart. 2004]
-
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC.
BMC Cell Biol. 2004 Mar 30; 5:12. Epub 2004 Mar 30.
[BMC Cell Biol. 2004]
- » See all...