Article
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
Human molecular genetics - 1 Oct 1995
Bione S, Small K, Aksmanovic V M, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates J R, Warren S T
Abstract excerpt
The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardiomyopathy characterized by conduction defects. Heart block is a frequent cause of death. Finding of mutations in one of the transcripts in the critical region in distal Xq28...
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