Background:There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy.A recent study suggested that dystrophic features are frequent in pati...Background:There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy.A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia(CPEO)with a high mutation load,but the actual frequency of these abnormalities in CPEO remains undetermined.Objective:To review the occurrence of dystrophic abnormalities in a large series of patients with CPEO to assess the frequency of such abnormalities and to verify whether they are correlated with specific mitochondrial DNA(mtDNA)mutations.Methods:Retrospective survey of case series(86 patients with CPEO).Results:Only three cases with dystrophic abnormalities were found:two with a large scale mtDNA deletion and one with the A3251G mutation.All three patients showed predominantly proximal muscular weakness resembling limb girdle muscular dystrophy.Conclusions:Dystrophic abnormalities are rare in CPEO and are not correlated with a specific molecular defect.展开更多
文摘Background:There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy.A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia(CPEO)with a high mutation load,but the actual frequency of these abnormalities in CPEO remains undetermined.Objective:To review the occurrence of dystrophic abnormalities in a large series of patients with CPEO to assess the frequency of such abnormalities and to verify whether they are correlated with specific mitochondrial DNA(mtDNA)mutations.Methods:Retrospective survey of case series(86 patients with CPEO).Results:Only three cases with dystrophic abnormalities were found:two with a large scale mtDNA deletion and one with the A3251G mutation.All three patients showed predominantly proximal muscular weakness resembling limb girdle muscular dystrophy.Conclusions:Dystrophic abnormalities are rare in CPEO and are not correlated with a specific molecular defect.
