نتایج جستجو برای: ullrich congenital muscular dystrophy
تعداد نتایج: 169567 فیلتر نتایج به سال:
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of ...
this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...
Glycosylation defects of alpha-dystroglycan (alpha-DG) cause various muscular dystrophies. We performed clinical, pathological and genetic analyses of 62 Japanese patients with congenital muscular dystrophy, whose skeletal muscle showed deficiency of glycosylated form of alpha-DG. We found, the first Japanese patient with congenital muscular dystrophy 1C with a novel compound heterozygous mutat...
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose β1, 2-N-acetylglucosaminyltransferas...
Genetic defects in a number of components of the dystrophin-glycoprotein complex (DGC) lead to distinct forms of muscular dystrophy. However, little is known about how alterations in the DGC are manifested in the pathophysiology present in dystrophic muscle tissue. One hypothesis is that the DGC protects the sarcolemma from contraction-induced damage. Using tracer molecules, we compared sarcole...
Forty parents of children with Barth Syndrome (BTHS) or congenital muscular dystrophy (CMD) and forty age-matched unaffected participated in this study. Both groups completed questionnaires providing information on their child’s functional ability, family cohesion, parental quality life, functioning.
Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open reading frame, while in frame mutations result in Becker muscular dystrophy (BMD). Ullrich congenital muscular dystrophy (UCMD) is due to mutations affecting collagen VI genes. Specific muscle miRNAs (dystromirs) are potential non-invasive biomarkers for monitoring the outc...
The muscular dystrophies are inherited muscle disorders characterized by weakness and progressive muscle wasting. They can be subdivided in different types, including congenital forms in accordance to distribution of weakness: Duchenne, Becker, Emery-Dreyfuss, limbgirdle, distal, facio-scapulo-humeral, oculofaringeal dystrophy. In this review we will deal with the most recent advances in dystro...
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