TWO CASES OF MUSCULAR DYSTROPHY WITH NECROPSY
نویسندگان
چکیده
منابع مشابه
Detection 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...
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BACKGROUND Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. MATERIALS AND METHODS We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics...
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Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...
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congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1900
ISSN: 0022-3018
DOI: 10.1097/00005053-190001000-00004