{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T10:41:24Z","timestamp":1773657684235,"version":"3.50.1"},"reference-count":17,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,5]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.32.5.344","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"344-347","source":"Crossref","is-referenced-by-count":22,"title":["Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study."],"prefix":"10.1136","volume":"32","author":[{"given":"U","family":"Drugge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Holmberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Holmgren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B G","family":"Almay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Linderholm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,5,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","volume-title":"more confined. In fact a majority ofthese places of residence are situated in just two separate","author":"McKusick, V.A.","year":"1992","unstructured":"McKusick VA. Mendelian inheritance in man 10th ed. Volume 2. Baltimore: The Johns Hopkins University Press, 1992. more confined. In fact a majority ofthese places of residence are situated in just two separate","edition":"10th ed."},{"key":"ref_2","series-title":"J Neurol Neurosurg; in the south. Hereditary diseases are typically","first-page":"361","article-title":"Hereditary metabolic myopathy with paroxysmal myoglobinuria due to abnormal glycolysis","volume":"27","author":"Larsson, L.E.; Linderholm, H.; Muller, R.; Ringqvist, T.; Sornas, R.","year":"1964","unstructured":"Larsson LE, Linderholm H, Muller R, Ringqvist T, Sornas R. Hereditary metabolic myopathy with paroxysmal myoglobinuria due to abnormal glycolysis. J Neurol Neurosurg parishes, that is, 0 to R in the north, and T to Z in the south. 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Acta Med Scand 1969;185:153-66.","journal-title":"Acta Med Scand"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/j.1365-2796.1990.tb00191.x","article-title":"Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria","volume":"228","author":"Linderholm, H.; Essen-Gustavsson, B.; Thornell, L.E.","year":"1990","unstructured":"Linderholm H, Essen-Gustavsson B, Thornell LE. Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria. J Intern Med 1990;228:43-52.","journal-title":"J Intern Med"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1172\/JCI115422","article-title":"Deficiency of skeletal muscle succinate dehydrogenase and aconitase. B has been found. Furthermore, both parents of family A and the father of family I are linked Pathophysiology of exercise in a novel human muscle oxidative defect","volume":"88","author":"Haller, R.G.; Henriksson, K.G.; Jorfeldt, L.","year":"1991","unstructured":"Haller RG, Henriksson KG, Jorfeldt L, et al. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. B has been found. Furthermore, both parents of family A and the father of family I are linked Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest 1991;88: 1197.","journal-title":"J Clin Invest"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2660","DOI":"10.1172\/JCI116882","article-title":"Kennaway in a rather complicated way to the two key families, R and S. Family R is also linked to NG. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several ion-sulphur proteins","volume":"92","author":"Hall, R.E.; Henriksson, K.G.; Levis, S.F.; Haller, R.G.","year":"1993","unstructured":"Hall RE, Henriksson KG, Levis SF, Haller RG, Kennaway in a rather complicated way to the two key families, R and S. Family R is also linked to NG. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several ion-sulphur proteins. J Clin Invest 1993;92:2660-6.","journal-title":"J Clin Invest"},{"key":"ref_7","first-page":"388","article-title":"Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis","volume":"30","author":"Drugge, U.; Andersson, R.; Chizari, F.","year":"1993","unstructured":"Drugge U, Andersson R, Chizari F, et al. Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet 1993;30:388-92. In order to determine the power ofthis family pedigree in linkage analysis, simulation studies","journal-title":"J Med Genet; order to determine the power ofthis family pedigree in linkage analysis, simulation studies"},{"key":"ref_8","first-page":"667","article-title":"Fragile X families in a northern Swedish county. A genealogical study back to the beginning of the 18th were performed using the SLINK program package.'819 A single autosomal recessive gene century demonstrating paternal transmission","volume":"30","author":"Holmgren, G.; Blomquist Kson, H.; Drugge, U.; Gustavson, K.H.","year":"1988","unstructured":"Holmgren G, Blomquist Kson H, Drugge U, Gustavson KH. Fragile X families in a northern Swedish county. A genealogical study back to the beginning of the 18th were performed using the SLINK program package.'819 A single autosomal recessive gene century demonstrating paternal transmission. 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