منابع مشابه
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique su...
متن کاملMuscular dystrophy: from pathogenesis to strategy.
Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. It characterized by progressive muscle wasting and weakness of variable distribution and severity. There are several subgroups including Duchenne/Becker, fascioscapulohumeral, limb-girdle, oculopharngeal, and congenital muscular dystrophy. Diagnosis is dependent to the characteristic clinical features i...
متن کاملCongenital muscular dystrophy: from muscle to brain
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.Recent classification of CMDs have been reported...
متن کاملSerum Creatinine Level: A Supplemental Index to Distinguish Duchenne Muscular Dystrophy from Becker Muscular Dystrophy
BACKGROUND To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. METHODS Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. RESULTS Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation a...
متن کاملSaying NO to muscular dystrophy
In This Issue In This Issue Saying NO to muscular dystrophy ccording to the prevailing model for Duchenne muscular dystrophy (DMD) pathogenesis, a lack of dystrophin protein makes muscle cells susceptible to mechanical damage, leading to muscle breakdown. On page 123, Wehling et al. suggest that the major damage in DMD may actually be caused by a secondary consequence of dystrophin loss: destru...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2007
ISSN: 0972-2327
DOI: 10.4103/0972-2327.37811