Dystrophin negative skeletal and myocardial muscle cells in a carrier of Duchenne's muscular dystrophy

A 47-year-old woman whose elder son had typical Duchenne's muscular dystrophy (DMD) was diagnosed as the manifesting carrier of the disease. She had developed congestive heart failure but had no evidence of skeletal muscular atrophy. Histological observation of the cardiac muscle revealed a mos...

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Bibliographic Details
Published in:European heart journal 1993-07, Vol.14 (7), p.989-992
Main Authors: WATANABE, K, IZUMI, T, NATSUI, M, MATSUBARA, N, MIYAKITA, Y, KOYAMA, S, INOMATA, T, SUZUKI, M, SHIBATA, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cardiac Output, Low - etiology
Diseases of striated muscles. Neuromuscular diseases
Dystrophin - analysis
Female
Heterozygote
Humans
Immunohistochemistry
Medical sciences
Middle Aged
Muscles - chemistry
Muscles - pathology
Muscular Dystrophies - complications
Muscular Dystrophies - genetics
Muscular Dystrophies - metabolism
Muscular Dystrophies - pathology
Myocardium - chemistry
Myocardium - pathology
Neurology
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Summary:A 47-year-old woman whose elder son had typical Duchenne's muscular dystrophy (DMD) was diagnosed as the manifesting carrier of the disease. She had developed congestive heart failure but had no evidence of skeletal muscular atrophy. Histological observation of the cardiac muscle revealed a mosaic pattern of dystrophin negative fibres detected by immunofluorescence analysis.
ISSN:0195-668X
1522-9645
DOI:10.1093/eurheartj/14.7.989