Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity
نویسندگان
چکیده
منابع مشابه
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
UNLABELLED Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen ...
متن کاملNutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy
Collagen VI mutations lead to disabling myopathies like Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (five female, three male, mean age 31 ± 9 years) in order to find a potential metabolic target for nutritional intervention. For this study, we used standard anthropometric tool...
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 (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 کاملBethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of ...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2005
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2005000500013