A3243G Mutation Mitochondrial Myopathy Presenting as Acute Lactic Acidosis with Motor and Sensory Ax

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户:ccx1942
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Introduction Acute onset mitochondrial myopathy with polyneuropathy is rare.Here we report a patient present as acute lactic acidosis, respiratory failure and muscle weakness.EMG showed dramatic decrease of motor amplitude and muscle biopsy showed typical mitochondrial abnormalities.We also found heterozygous A3243Gmutations in his blood.
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