Key result
Genealogical tracing of hereditary myopathy finds no common ancestors, suggesting autosomal recessive inheritance.
Why the study?
A hereditary myopathy with lactic acidosis and deficiency of succinate dehydrogenase and aconitase has been described in northern Sweden, but its genealogical origins and inheritance mode were unclear.
Observational (n=19)
The study establishes an autosomal recessive mode of inheritance for a specific hereditary myopathy in northern Sweden, providing a foundation for future chromosomal localization of the gene.
May aid diagnosis of rare exercise-induced myoglobinuria in northern Swedish ancestries; leaves open genetic mechanisms and prevalence.
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.
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Drugge et al. (1995) conducted an observational in Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency (n=19). Genealogical tracing was evaluated on Common ancestors or links between families. Genealogical tracing of 19 cases of hereditary myopathy in northern Sweden found no common ancestors up to 300 years ago, suggesting an autosomal recessive mode of inheritance.
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