HEREDITARY MYOPATHY WITH LACTIC-ACIDOSIS, SUCCINATE-DEHYDROGENASE AND ACONITASE DEFICIENCY IN NORTHERN SWEDEN - A GENEALOGICAL STUDY
HEREDITARY MYOPATHY WITH LACTIC-ACIDOSIS, SUCCINATE-DEHYDROGENASE AND ACONITASE DEFICIENCY IN NORTHERN SWEDEN - A GENEALOGICAL STUDY
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DOI：
10.1136/jmg.32.5.344
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发表时间：
1995-05-01
影响因子：
4
通讯作者：
LINDERHOLM, H
中科院分区：
文献类型：
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作者：
DRUGGE, U;HOLMBERG, M;LINDERHOLM, H
一种遗传性肌病，伴有体育锻炼中的乳酸酸中毒、低体力活动能力和阵发性肌红蛋白尿，称为((肌病伴琥珀酸脱氢酶和乌头酸酶缺乏))(McKusick 255125)，来自瑞典北部两个地理位置不同的地区的9个家庭的19名成员。通过使用瑞典独特的历史档案，包括来自瑞典北部一些教区的问答会议记录，已经有可能追溯到包括所有已知的19例在内的9个家庭的祖先，追溯到一些关键夫妇，他们生活在300年前(即7到10代)。在这些登记册中没有发现过去常见的单一夫妇或家庭之间的共同联系，以支持在很久以前发展起来的单个或几个突变。该家系遗传方式很可能为常染色体隐性遗传。这些材料将用于基因的染色体定位。
A hereditary myopathy with lactic acidosis during physical exercise, low physical work capacity, and paroxysmal myoglobinuria (HML), called ((Myopathy with deficiency of succinate dehydrogenase and aconitase)) (McKusick 255125) has been described in 19 members of nine families who lived in two geographically separate areas in northern Sweden. By using the unique Swedish historical archives, including Catechetical Meeting Records from a number of northern Swedish parishes, it has been possible to trace ancestors of the nine families including all known 19 cases back in time to some key couples, who lived up to 300 years ago (that is seven to ten generations). No common single couple or common links between families in the past was found in these registers as a support for a single or several mutations that had developed far back in time. The mode of inheritance in this family is most likely autosomal recessive. This material will be used for the chromosomal localisation of the gene.