منابع مشابه
Clinical and Genetic Characterization of Female Dystrophinopathy
BACKGROUND AND PURPOSE Duchenne and Becker muscular dystrophies are the most common X-linked recessive muscular dystrophies. Dystrophin gene mutations usually affect men, but reportedly 2.5-7.8% of women are affected and are classified as symptomatic carriers. The aim of this study was to clinically and genetically characterize symptomatic female dystrophinopathy carriers. METHODS The clinica...
متن کاملDetection and management of cardiomyopathy in female dystrophinopathy carriers
Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since 1994. Among 43 mothers participated in this study, 28 dystrophinopathy carriers were identified. Skeletal and cardiac muscle functions of these subjects were examined. High serum creatine kinase was found in 23 subjects (82.1%). Obvious ...
متن کاملPrevalence of Trichomonas Vaginalis in Diabetic Females
Abstract Background and Objective: Trichomonas vaginalis is a pathogenic agent known worldwide and affects about 180 million annually. We aimed to investigate the prevalence of Trichomonas vaginalis in diabetic patients referred to diabetic research center. Material and Methods: In this descriptive-analytic study, 215 women referring to the Diabetic Center in Kermanshah Province were invest...
متن کامل[X-linked dilated cardiomyopathy: a cardiospecific phenotype of dystrophinopathy].
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...
متن کاملX-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1992
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-6-6-4