Progressive Scoliosis in Ullrich Congenital Muscular Dystrophy (UCMD)
نویسندگان
چکیده
منابع مشابه
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
OBJECTIVE Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS Four unrelated Iranian families with six affected...
متن کاملModerately progressive Ullrich congenital muscular dystrophy.
OBJECTIVES To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. DESCRIPTION This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibrobla...
متن کاملullrich congenital muscular dystrophy (ucmd): clinical and genetic correlations
how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22. obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...
متن کاملullrich congenital muscular dystrophy
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
متن کاملulrich congenital muscular dystrophy (ucmd)
ulrich congenital muscular dystrophy is an autosomal recessive disorder of collagen type vi-related disorders. this condition presents with early onset proximal joint contractures, muscle weakness and hyperelasticity of the distal joints. prominent calcanei are common. muscle weakness is so profound that children never achieve the ability to walk independently or walk for only short periods. se...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2013
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-27-9-11