Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis

X-linked Emery-Dreifuss muscular dystrophy (EMD) is a very rare, relatively benign muscle disorder. The disease is associated with potentially lethal cardiac arrhythmias in affected males and some heterozygous females. X-linked EMD can be genetically distinguished from phenotypically similar autosom...

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Bibliographic Details
Published in:Disease markers 1997-04, Vol.13 (2), p.77-86
Main Authors: WULFF, K, EBENER, U, WEHNERT, C.-S, WARD, P. A, REUNER, U, HIEBSCH, W, HERRMANN, F. H, WEHNERT, M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
DNA Mutational Analysis
Female
Genetic Carrier Screening - methods
Genetic Linkage
Humans
Male
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Muscular Dystrophies - diagnosis
Muscular Dystrophies - etiology
Muscular Dystrophies - genetics
Muscular Dystrophy, Emery-Dreifuss
Neurology
Nuclear Proteins
Nucleic Acid Heteroduplexes - chemistry
Pedigree
Polymerase Chain Reaction
Thymopoietins - genetics
X Chromosome - chemistry
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Summary:X-linked Emery-Dreifuss muscular dystrophy (EMD) is a very rare, relatively benign muscle disorder. The disease is associated with potentially lethal cardiac arrhythmias in affected males and some heterozygous females. X-linked EMD can be genetically distinguished from phenotypically similar autosomal EMD. Heterogenic mutations are identified as the cause of X-linked EMD. We introduced heteroduplex analysis to follow the segregation of heterogenic emerin gene mutations in the families of six unrelated EMD patients. Heteroduplex analysis was proved to be a simple, fast and reliable tool for direct molecular genetic diagnosis of EMD in male patients and identification of heterozygotes even in families where affected males are not available as index cases.
ISSN:0278-0240
1875-8630