[Emery-Dreifuss muscular dystrophy].
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-linked EDMD has been identified to Xq28 (designated as STA), that encodes a serine-rich protein of 254 amino acids, named emerin. In 1996, we discovered a nuclear membrane localization of emerin in the normal skeletal, cardiac and smooth muscles, but not in the tissues from patients with X-linked EDMD who had a nonsense mutation in the gene. In conclusion, molecular and genetic analyses of emerin are essential for accurate diagnosis of patients with EDMD.
Kubo
S
S
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP).
Tsukahara
T
T
Arahata
K
K
D009202:Cardiomyopathies / Q000209:etiology; D016757:Death, Sudden, Cardiac / Q000209:etiology; D005808:Genes, Recessive; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D009154:Mutation; D009687:Nuclear Proteins; D013946:Thymopoietins / Q000235:genetics; D014960:X Chromosome
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin