Vives-Bauza C, Gamez J, Roig M, Briones P, Cervera C, Solano A, Montoya J, Andreu A L
Research Centre for Biochemistry and Molecular Biology, Universitary Hospital Vall d'Hebron, Barcelona, Spain.
Ann Med. 2001 Oct;33(7):493-6. doi: 10.3109/07853890109002099.
Some patients presenting with isolated lifelong exercise intolerance and ragged-red fibres, harbour skeletal-muscle restricted mutations in their mitochondrial DNA.
To identify the molecular defect in a patient presenting with lifelong exercise intolerance, ragged-red fibres and deficiencies of complexes III and IV in skeletal muscle.
The muscle biopsy was studied for activities of the respiratory chain, histochemical stains, and sequencing the tRNA genes of mitochondrial DNA.
The patient had a heteroplasmic mutation in the tRNA(Leu (CUN)) gene of mitochondrial DNA (G12334A). Clinical and morphological data as well as restriction fragment length polymorphism (RFLP) and single-fibre polymerase chain reaction (PCR) analyses strongly indicate that this molecular defect is the primary cause of the myopathy.
Mutations in any mitochondrial gene should be considered in the differential diagnosis of patients with lifelong exercise intolerance, even when the neurological examination is normal.
一些表现为孤立性终身运动不耐受和破碎红纤维的患者，其线粒体DNA存在骨骼肌限制性突变。
鉴定一名表现为终身运动不耐受、破碎红纤维以及骨骼肌中复合物III和IV缺乏的患者的分子缺陷。
对肌肉活检组织进行呼吸链活性研究、组织化学染色以及线粒体DNA的tRNA基因测序。
该患者线粒体DNA的tRNA(Leu (CUN))基因存在异质性突变（G12334A）。临床和形态学数据以及限制性片段长度多态性（RFLP）和单纤维聚合酶链反应（PCR）分析强烈表明，这种分子缺陷是肌病的主要原因。
即使神经学检查正常，对于终身运动不耐受的患者进行鉴别诊断时，也应考虑任何线粒体基因突变。
