Drugge U, Holmberg M, Holmgren G, Almay B G, Linderholm H
Department of Sociology, University of Umeå, Sweden.
J Med Genet. 1995 May;32(5):344-7. doi: 10.1136/jmg.32.5.344.
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.
一种遗传性肌病，其特征为运动时伴有乳酸酸中毒、体力劳动能力低下和阵发性肌红蛋白尿（HML），被称为“琥珀酸脱氢酶和乌头酸酶缺乏性肌病”（麦库西克255125），在居住于瑞典北部两个地理上相隔区域的9个家族的19名成员中得到描述。通过利用瑞典独特的历史档案，包括来自瑞典北部一些教区的教义问答会议记录，得以追溯这9个家族的祖先，包括所有已知的19例病例，一直追溯到一些关键夫妇，他们生活在300年前（即七到十代以前）。在这些登记簿中未发现过去家族之间有共同的单一夫妇或共同联系，以此支持在很久以前就已发生的一个或几个突变。这个家族的遗传模式很可能是常染色体隐性遗传。该材料将用于该基因的染色体定位。
