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Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies
- Source :
- Neuromuscular disorders : NMD. 7(1)
- Publication Year :
- 1997
-
Abstract
- The X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) was recently shown to be due to mutations in the STA gene on chromosome Xq28. We have demonstrated a simple test for the diagnosis of this condition, looking for altered expression of the protein, emerin, in leucocytes and skin with a monoclonal antibody. Full-length emerin is completely absent in affected boys from the EDMD families studied. The method has also enabled identification of a female carrier of the disease by reduced levels of the protein on the leucocyte Western blot and a mosaic pattern of expression by immunofluorescence microscopy of the skin biopsy.
- Subjects :
- Male
X Chromosome
Adolescent
medicine.drug_class
Genetic Linkage
Emerin
Fluorescent Antibody Technique
Thymopoietins
Biology
Immunologic Tests
Monoclonal antibody
X-inactivation
Muscular Dystrophies
Western blot
medicine
Leukocytes
Humans
Muscular dystrophy
Genetics (clinical)
Skin
medicine.diagnostic_test
Genetic Carrier Screening
Chromosome
Antibodies, Monoclonal
Membrane Proteins
Nuclear Proteins
medicine.disease
Molecular biology
Muscular Dystrophy, Emery-Dreifuss
Xq28
Pedigree
Neurology
Pediatrics, Perinatology and Child Health
Skin biopsy
Female
Neurology (clinical)
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 7
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Neuromuscular disorders : NMD
- Accession number :
- edsair.doi.dedup.....9d4d758474eaed4734a9c806414620e0