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By means of magnetic resonance imaging(MRI),the proton spin-lattice relaxation times(T1 values)of the skeletal muscles were measured in Duchenne muscular dystrophy(DMD)carriers and normal controls.The bound water fraction(BWF)was calculated from the T1 values obtained,according to the fast proton diffusion model.In the DMD carriers,T1 values of the gluteus maximus and quadriceps femoris muscles were significantly higher, and BWFs of these muscles were significantly lower,than in normal control. Degenerative muscular changes accompanied by interstitial edema were presumed responsible for this abnormality.No correlation was observed between the muscle T1 and serum creatine kinase values.The present study showed that MRI could be a useful method for studying the dynamic state of water in both normal and pathological skeletal muscles.Its possible utility for DMD carrier detection was discussed briefly.newabs MD29RC Analysis of mitochondrial DNA(mtDNA)in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA.All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness,and 8 had the additional features of the Kearns-Sayre syndrome.Of the 42 patients without detectable muscle mtDNA deletions,10 had progressive external ophthalmoplegia and limb weakness,2 had the Kearns-Sayre syndrome,11 had limb weakness without extraocular involvement,and 19 had multisystem disorders predominantly affecting the central nervous system.Only 2 patients with mtDNA deletions had clinically affected relatives,compared with 10 of those without deletions.In the 4 patients with polarographic defects exclusively involving complex I(NADH coenzyme Q reductase),the deleted protein-coding genes were confined to those of complex I subunits. Thirteen other patients with apparently identical deletions had variable clinical and biochemical features.Immunoblots of complex I polypeptides from patients with deletions were either indistinguishable from controls or showed only a mild generalized decrease in all identifiable subunits. |
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MRI
MRI,abnormal
muscular dystrophy
muscular dystrophy,Duchenne
muscular dystrophy,Duchenne,carrier
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