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See Latest ArticlesClinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy
Brain, 07/01/09
Kollberg G et al. - Myopathy with deficiency of succinate dehydrogenase and aconitase is a recessively inherited disorder characterized by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, severe metabolic acidosis and rhabdomyolysis may occur.
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Today in Basic Science/Genetics...keeping you current
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Susceptibility for ischemic stroke in Four Constitution medicine is associated with polymorphisms of FCGR2A and IL1RN genes
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Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS
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Today in Neuropathy/Myopathy...keeping you current
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Prevalence of painful diabetic peripheral neuropathy among patients suffering from diabetes mellitus in Saudi Arabia
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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
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