نتایج جستجو برای: facioscapulohumeral muscular dystrophy
تعداد نتایج: 52771 فیلتر نتایج به سال:
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX...
We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complaine...
Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of subjects affected by facioscapulohumeral muscular dystrophy do not carry alleles with eight or fewer D...
Facioscapulohumeral muscular dystrophy (FSHD) is a common inherited muscular dystrophy presented clinically with slowly progressive weakness and wasting of facial and limb muscles and rare bulbar muscle involvement. We present herein a 70-year-old man who was a known case of FSHD with complaint of 15-day history of progressive difficulty in chewing and dysarthria and was found to have myastheni...
The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most...
Pulmonary complications including chest infections, atelectasis, pulmonary hypoplasia and ventilatory failure are the leading cause of death in the muscular dystrophies and atrophies. Ventilatory insufficiency is virtually inevitable in Duchenne muscular dystrophy and type 1 spinal muscular atrophy (SMA), but more variable in limb-girdle, congenital, and facioscapulohumeral muscular dystrophy. ...
1. Mostacciuolo M, Pastorello E, Vazza G et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009: 75: 550–555. 2. Lemmers RJLF, Van der Vliet PJ, Klooster R et al. A unifying genetic model for fascioscapulohumeral muscular dystrophy. Science 2010: 329: 1650–1653. 3. Scionti I, Greco F, Ricci G et al. Large-sca...
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