Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA.
Muscle Nerve. 2010 Jul;42(1):136-40. doi: 10.1002/mus.21649.
Cytochrome b mutations are rare causes of exercise intolerance. We report an 18-year-old man with exercise intolerance since childhood, resting lactic acidosis, cytochrome c oxidase (COX)-positive ragged-red fibers, and isolated muscle complex III deficiency due to a heteroplasmic m.14849T>C mutation in cytochrome b. We review previously described patients carrying mutations in the same gene. COX-positive ragged-red fibers together with exercise intolerance and lactic acidemia provide a clue for the diagnosis of this rare mitochondrial disorder.
细胞色素 b 突变是运动不耐受的罕见原因。我们报告了一例 18 岁男性，自幼运动不耐受，静息性乳酸酸中毒，细胞色素 c 氧化酶（COX）阳性破碎红纤维，以及由于细胞色素 b 的 m.14849T>C 异质性突变导致的单纯肌肉复合物 III 缺陷。我们回顾了先前描述的携带同一基因突变的患者。COX 阳性破碎红纤维伴运动不耐受和乳酸酸中毒为诊断这种罕见的线粒体疾病提供了线索。
