Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
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 t...
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1995
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fthighwire:oai:open-archive.highwire.org:jmedgenet:32/5/344 2023-05-15T17:44:22+02:00 Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. Drugge, U Holmberg, M Holmgren, G Almay, B G Linderholm, H 1995-05-01 00:00:00.0 text/html http://jmg.bmj.com/cgi/content/short/32/5/344 https://doi.org/10.1136/jmg.32.5.344 en eng BMJ Publishing Group Ltd http://jmg.bmj.com/cgi/content/short/32/5/344 http://dx.doi.org/10.1136/jmg.32.5.344 Copyright (C) 1995, BMJ Publishing Group Ltd Research Article TEXT 1995 fthighwire https://doi.org/10.1136/jmg.32.5.344 2013-05-26T17:00:32Z 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. Text Northern Sweden HighWire Press (Stanford University) Journal of Medical Genetics 32 5 344 347 |
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HighWire Press (Stanford University) |
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language |
English |
topic |
Research Article |
spellingShingle |
Research Article Drugge, U Holmberg, M Holmgren, G Almay, B G Linderholm, H Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. |
topic_facet |
Research Article |
description |
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. |
format |
Text |
author |
Drugge, U Holmberg, M Holmgren, G Almay, B G Linderholm, H |
author_facet |
Drugge, U Holmberg, M Holmgren, G Almay, B G Linderholm, H |
author_sort |
Drugge, U |
title |
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. |
title_short |
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. |
title_full |
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. |
title_fullStr |
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. |
title_full_unstemmed |
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. |
title_sort |
hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern sweden: a genealogical study. |
publisher |
BMJ Publishing Group Ltd |
publishDate |
1995 |
url |
http://jmg.bmj.com/cgi/content/short/32/5/344 https://doi.org/10.1136/jmg.32.5.344 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
http://jmg.bmj.com/cgi/content/short/32/5/344 http://dx.doi.org/10.1136/jmg.32.5.344 |
op_rights |
Copyright (C) 1995, BMJ Publishing Group Ltd |
op_doi |
https://doi.org/10.1136/jmg.32.5.344 |
container_title |
Journal of Medical Genetics |
container_volume |
32 |
container_issue |
5 |
container_start_page |
344 |
op_container_end_page |
347 |
_version_ |
1766146574037024768 |