HEREDITARY MYOPATHY WITH LACTIC-ACIDOSIS, SUCCINATE-DEHYDROGENASE ANDACONITASE DEFICIENCY IN NORTHERN SWEDEN - A GENEALOGICAL STUDY

A hereditary myopathy with lactic acidosis during physical exercise, l ow 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 wh o lived in two geographically separate areas in northern Sweden. By us ing the unique Swedish historical archives, including Catechetical Mee ting Records from a number of northern Swedish parishes, it has been p ossible 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 autosom al recessive. This material will be used for the chromosomal localisat ion of the gene.