Letter by yilmaz et Al regarding article, "analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy".
نویسندگان
چکیده
منابع مشابه
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.
BACKGROUND Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle. Cardiac involvement is present in approximately 70% of BMD and all X-linked dilated cardiomyopathy cases. To date, the timing of cardiomyopathy development remains unpredictable....
متن کاملThe Diagnostic Value of Utrophin in Mild Dystrophinopathy (Becker Muscular Dystrophy)
Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...
متن کاملDilated cardiomyopathy and the dystrophin gene: an illustrated review.
Cardiomyopathy is often found in patients with Duchenne and Becker muscular dystrophy, which are X linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects present in many different ways and cases of mild Becker muscular dystrophy have been described in which cardiomyopathy was severe. Female carriers of Duchenne muscular dystrophy can develop symptomatic skeletal m...
متن کاملP-12 Becker patients with isolated deletion of exon 48 in dystrophin gene present with a mild phenotype and seem to escape cardiomyopathy
Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. The signs and symptoms of Becker muscular dystrophy are usually milder and exhibit a large range of variation. In most cases, muscle weakness becomes apparent later in childhood or ado...
متن کاملDeletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
OBJECTIVE The deletion in the dystrophin gene has been reported for many ethnic groups, but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). We examined the deletion pattern in the dystrophin gene of the Saudi patients applying multiplex-polymerase chain reaction (PCR). The ai...
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ورودعنوان ژورنال:
- Circulation. Cardiovascular genetics
دوره 3 2 شماره
صفحات -
تاریخ انتشار 2010