نتایج جستجو برای: ullrich congenital muscular dystrophy
تعداد نتایج: 169567 فیلتر نتایج به سال:
Aim and Background: Becker’s muscular dystrophy (BMD) is similar to the Duchenne’s muscular dystrophy, but the clinical course is milder.We introduced a patient with Becker Muscle Dystrophy who candidate for emergency cesarean section.Case report:A36-year-old woman, gestational age 31 weeks, with a history of Becker Muscle Dystrophy and fetal distress who candidate for emergency cesarean sectio...
Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is congenital or during childhood. The exception is FKRP mutations, in...
how to cite this article: karimzadeh p, ghazavi a. comparison of deflazacort and prednisone in duchenne muscular dystrophy. iranianjournal of child neurology 2012;6(1):5-12. objective duchenne muscular dystrophy (dmd) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. no cure is yet available for dmd, but the use of steroids impro...
Mutations in any of the three genes coding for the extracellular matrix protein collagen VI cause different types of muscle diseases, including Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Congenital Myosclerosis (1). Collagen VI null (Col6a1–/–) mice display a myopathic phenotype with organelle defects, mitochondrial dysfunction and spontaneous apoptosis of muscle fi...
Cerebral malformations in conjunction with congenital muscular dystrophy are unusual. Three such combinations have been described, including Walker-Warburg syndrome [1, 2]; muscle, eye, and brain disease [3]; and Fukuyama-type congenital muscular dystrophy (FCMD) [4] . FCMD occurs with particularly high frequency in Japan, where it is the second most prevalent form of progressive muscular dystr...
Almost 100 years ago, Steinert (1909), Batten and Gibb (1909), independently described Myotonic Dystrophy type 1 (DM1) that is now recognized as the most common form of muscular dystrophies in adults and the second most common type of muscular dystrophy after Duchenne Muscular Dystrophy, affecting 1 in 8000 individuals globally (Harper, 1989). DM1 is a genetic disorder, which is inherited in an...
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal-recessive disorders in Japan, is characterized by congenital muscular dystrophy associated with brain malformation due to a defect during neuronal migration. Through positional cloning, we previously identified the gene for FCMD, which encodes the fukutin protein. Here we report that chimeric mice generated usi...
Two forms of congenital muscular dystrophy (CMD), Fukuyama CMD and CMD type 1C (MDC1C) are caused by mutations in the genes encoding two putative glycosyltransferases, fukutin and fukutin-related protein (FKRP). Additionally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a considerably milder allelic variant than MDC1C. All of these diseases are associat...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید