Abnormalities of the electrocardiogram in female carriers of Duchenne muscular dystrophy.
نویسنده
چکیده
The algebraic sum of the R and S waves (R-S) in the V(1) lead of the electrocardiogram has been found to be significantly greater in female carriers of X-linked Duchenne muscular dystrophy (but not in women with limb-girdle muscular dystrophy) compared with normal women of comparable age. A similar E.C.G. abnormality is found in affected boys, and possibly certain carriers have a latent cardiomyopathy and may even be predisposed to cardiac failure.
منابع مشابه
P164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملDetection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
متن کاملتشخیص مولکولی ناقلین بیماری دیستروفی عضلانی دوشن در خانواده‌های مشکوک، با استفاده از نشانگرهای ریزماهواره‌ای
Background and Objective: Duchenne Muscular Dystrophy(DMD) is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is the consequence of mutations in dystrophin gene located on X chromosome. Inheritance pattern of the disease is gene-dependent recessive with an incidence of one in 3500 alive male newborns. Due to the absence of efficient treatment, detection of fe...
متن کاملERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy.
PURPOSE Mutations in the dystrophin gene result in Duchenne muscular dystrophy (DMD). DMD is associated with an abnormal electroretinogram (ERG) if the mutation disrupts the translation of retinal dystrophin (Dp260). Our aim was to determine if incomplete ERG abnormalities would be associated with heterozygous carriers of dystrophin gene mutations. METHODS Ganzfeld ERGs were obtained under sc...
متن کاملPlasma levels of brain natriuretic peptide as an index for evaluation of cardiac function in female gene carriers of Duchenne muscular dystrophy.
The level of plasma brain natriuretic peptide (BNP) was elevated in 8 of 15 female gene carriers of Duchenne muscular dystrophy (DMD), and the level correlated with indices of cardiac function. In one of these carriers, whose clinical course was followed for one year, the plasma BNP level was elevated before the development of cardiac symptoms, further increased with the evolution of cardiac sy...
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ورودعنوان ژورنال:
- British medical journal
دوره 2 5654 شماره
صفحات -
تاریخ انتشار 1969