Complex mitochondriopathy associated with 4 mtDNA transitions

被引：36

作者：

Finsterer, J

Bittner, R

Bodingbauer, M

Eichberger, H

Stöllberger, C

Blazek, G

机构：

[1] Univ Vienna, Ludwig Boltzmann Inst Epilepsy & Neuromuscular Di, A-1010 Vienna, Austria

[2] Univ Vienna, Neuromuscular Dept, Inst Anat, A-1010 Vienna, Austria

[3] KA Rudolfstiftung, Dept Med 2, Vienna, Austria

[4] Hanusch Hosp, Dept Med 2, Vienna, Austria

来源：

EUROPEAN NEUROLOGY | 2000年 / 44卷 / 01期

关键词：

cytb gene mutation; ND1 gene mutation; renal failure; cardiomyopathy; hypogonadism; mitochondria; muscle biopsy; neuromuscular disorder;

D O I：

10.1159/000008190

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left ventricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high lactate levels on exercise, partially reduced cytochrome-c oxidase staining and abnormally structured mitochondria on muscle biopsy. Mitochondrial DNA (mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle. Copyright (C) 2000 S. Karger AG, Basel.

引用

页码：37 / 41

页数：5

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