Rubio J C, Martín M A, Bautista J, Campos Y, Segura D, Cabello A, Chinchón I, Arenas J
Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain.
J Neurol Sci. 1998 Dec 11;161(2):110-3. doi: 10.1016/s0022-510x(98)00263-9.
We studied a 21-year-old patient with clinical, biochemical and histochemical evidence of myophosphorylase deficiency and unusual repetitive episodes of pigmenturia. His muscle biopsy also revealed morphological signs of mitochondrial proliferation and a defect of complex I of the respiratory chain. His mother had exercise intolerance without myoglobinuria and no histochemical evidence of myophosphorylase deficiency. In muscle, the mother showed some ragged-red fibers, normal respiratory chain levels and a significant residual phosphorylase activity. Molecular genetic analysis revealed that the proband was homozygous for the mutation commonly found in McArdle's disease. The mother, father, and the five siblings were all heterozygous for the same mutation. Mitochondrial DNA analysis of the proband's muscle failed to demonstrate known mutations associated with his clinical pattern. Moreover, we sequenced his tRNA(Leu(UUR)) gene, a hot spot for mutations, showing no abnormality.
我们研究了一名21岁的患者，其具有肌磷酸化酶缺乏的临床、生化和组织化学证据以及不寻常的反复色素尿发作。他的肌肉活检还显示出线粒体增殖的形态学迹象以及呼吸链复合体I缺陷。他的母亲有运动不耐受但无肌红蛋白尿，且没有肌磷酸化酶缺乏的组织化学证据。在肌肉方面，母亲表现出一些破碎红纤维、正常的呼吸链水平和显著的残余磷酸化酶活性。分子遗传学分析显示，先证者对于常见于麦卡德尔病的突变是纯合的。母亲、父亲和五个兄弟姐妹对于相同突变均为杂合子。对先证者肌肉的线粒体DNA分析未能证明与他的临床模式相关的已知突变。此外，我们对他的tRNA(Leu(UUR))基因（一个突变热点）进行了测序，未显示异常。
