نتایج جستجو برای: muscular dystrophies
تعداد نتایج: 45375 فیلتر نتایج به سال:
Current Opinion in Neurology 2008, 21:576–584 Purpose of review The aim of this review is to provide an up-to-date analysis of current knowledge about limb–girdle muscular dystrophies (LGMDs). Recent findings Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular d...
BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is the 3(rd) most common form of muscular dystrophy. Effective treatments for any of the muscular dystrophies have yet to be realized. This report describes such a treatment. CASE REPORT A 66 year old female was diagnosed with osteoporosis. She had been diagnosed with FSHD muscular dystrophy a number of years previously by both genetic ...
The dystroglycan (DG) expression pattern can be altered in severe muscular dystrophies. In fact, some congenital muscular dystrophies (CMDs) and limb-girdle muscular dystrophies (LGMDs) are caused by point mutations identified in six glycosyltransferase genes which are likely to target different steps along the posttranslational "O-glycosylation route" leading to a fully decorated and functiona...
BACKGROUND Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. ME...
Lamin mutations cause muscular dystrophies, but the mechanism is unclear. A new study shows that lamin mutant worms display muscle-specific defects linked to altered subnuclear localization of heterochromatin, leading to altered gene expression.
Muscular dystrophies are inherited disorders in which muscle fibers are unusually susceptible to damage, leading to progressive loss of muscle structure and function. Some types of muscular dystrophy affect heart muscles, other involuntary muscles and other organs. The most common form of muscular dystrophy, Duchenne Muscular Dystrophy (DMD), is due to genetic deficiency of the protein dystroph...
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