Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.

• Published in: Journal of Medical Genetics
• Main Authors: Drugge, U, Holmberg, M, Holmgren, G, Almay, B G, Linderholm, H
• Format: Text
• Language: English
• Published: BMJ Publishing Group Ltd 1995
• Subjects: Research Article; Northern Sweden
• Online Access: http://jmg.bmj.com/cgi/content/short/32/5/344; https://doi.org/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.