Czell David, Abicht Angela, Hench Jürgen, Weber Markus
Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St.Gallen, Switzerland.
BMJ Case Rep. 2012 Dec 6;2012:bcr2012006980. doi: 10.1136/bcr-2012-006980.
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes comprises a number of mitochondrial disorders with a wide range of clinical presentations. We present the case of a 32-year-old patient with an m.3243A>T mitochondrial DNA mutation who presented with rhabdomyolysis after 2 days of excessive physical work. The case presented here demonstrates a new clinical phenotype associated with this pathogenic mtDNA mutation.
线粒体脑肌病、乳酸酸中毒和卒中样发作包括多种临床表现广泛的线粒体疾病。我们报告了一例32岁患者，其线粒体DNA存在m.3243A>T突变，在过度体力劳动2天后出现横纹肌溶解。本文报告的病例展示了与这种致病性线粒体DNA突变相关的一种新的临床表型。
