COLLAGEN DISORDERS
نویسندگان
چکیده
منابع مشابه
Genetic disorders of collagen.
Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.
متن کاملCollagen VI related muscle disorders.
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosoma...
متن کاملCollagen Type VI-Related Disorders Panel
The collagen type VI-related disorders are nowadays considered to be a continuum of overlapping phenotypes with Bethlem myopathy at the mild end and Ullrich congenital muscular dystrophy (UCMD) at the severe end. In between these phenotypes there are collagen type VI-related limb-girdle muscular dystrophy and myosclerosis myopathy. Most cases of Bethlem myopathy have autosomal dominant inherita...
متن کاملA challenging entity: multiple sclerosis or collagen tissue disorders: A case series of 6 patients
Background: Multiple sclerosis and other demyelinating processes are sometimes difficult to differentiate from the neurological involvement in autoimmune diseases. Distinguishing multiple sclerosis from other lesions due to autoimmune diseases is crucial to avoid unsuitable or delayed treatments. Methods: Charts of 6 patients diagnosed with mimicking multiple sclerosis between 1996 and 2014 we...
متن کاملThe cardiovascular manifestations of genetic disorders of collagen metabolism.
Current research in the biochemistry and molecular genetics of collagen metabolism has produced a sophisticated level of understanding of the mechanisms involved in the pathogenesis of a number of inherited diseases of connective tissue. Nowhere is this better exemplified than in the cardiovascular disorders associated with certain genetic disorders of collagen metabolism. For instance, the lif...
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ژورنال
عنوان ژورنال: Brain
سال: 1960
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/83.4.762-a