核苷酸上3243位点上A—G突变是罹患线粒体脑肌病伴乳酸性酸中毒和卒中样发作综合征(MFLAS)病人最常见的基因突变。作者首次报道1例以复发性呼吸衰竭为表现的线粒体DNA3243突变者。病人男性,57岁,因进行性肌无力入院。其母亲曾患数次卒中,49岁因卒中而死亡;其母亲的一位表亲有智力发育延滞和步态障碍;其姐为一与患者相同的突变基因健康携带者。神经病学检查发现有发音和吞咽困难,四肢近端肌无力,精神状态正常。深反射减弱。血清谷氨酸草酸—醋酸转氨酶、乳 The A-G mutation at nucleotide 3243 is the most common genetic mutation in patients with mitochondrial encephalomyopathy associated with lactic acidosis and stroke-like episodes (MFLAS). The authors first reported a case of recurrent respiratory failure as a manifestation of mitochondrial DNA3243 mutations. Male patient, 57 years old, admitted with progressive myasthenia. Her mother had had several strokes and died of a stroke at age 49; one of her mother’s cousins ​​had intellectual retardation and gait disorders; her sister was a mutant with the same genetic health as the patient. Neurological examination found that there is difficulty in pronunciation and swallowing, limb weakness proximal muscle, mental state is normal. Deep reflection weakened. Serum glutamic oxalate - acetate transaminase, milk