نتایج جستجو برای: facioscapulohumeral muscular dystrophy
تعداد نتایج: 52771 فیلتر نتایج به سال:
The impacts of potentially treatable psychological parameters on quality life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. purpose this study was to compare life, parameters, physical function between dystrophy controls, examine relationships among these Twenty-one (n = 7 Becker, n 8 6 Limb-girdle) ten age-matched controls participated...
BACKGROUND In 1991, the first world survey of neuromuscular disorders (NMDs) was published in the peer reviewed literature. Since then, diagnostics have been greatly improved through genetic confirmation and consensus on criteria. This prompted us to search the scientific literature since 1990 for the epidemiology of NMDs. OBJECTIVES To study occurrence rates, gender and age distribution. M...
Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are needed in order to objectively monitor muscle condition and response to treatment targeting metabolic abnormalities. We used a metabolomic approach ...
BACKGROUND In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. METHODS We propose an MRI protocol evaluating neck and upper girdle ...
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHDI has an unusual pathogenic mecha nism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chro mosome 4q. Recent studies provide compelling evi dence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatie t...
Facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 allele on chromosome 4qter. There is also marked DNA hypomethylation of the D4Z4 allele. The DNA hypomethylation may have a central role in the pathogenesis of FSHD. Supplemental folic acid can boost DNA methylation. We evaluated the effect of oral folic acid and methionine supplementation on the methylat...
how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...
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