The DOI matches its Crossref record; 15 of the 17 references it cites were found in a registry or an index.
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: A genealogical study
Open accessAbstract
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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“Aconitase deficiency is associated with myopathies and low exercise endurance [109].”
From Superoxide Anion Chemistry—Its Role at the Core of the Innate Immunity (2023) · cites this paper as [109]
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Self-citationHEREDITARY ABNORMAL MUSCLE METABOLISM WITH HYPERKINETIC CIRCULATION DURING EXERCISE
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Warren, J. D., Blumbergs, P. C., & Thompson, P. D. (2002) · Muscle & Nerve · doi:10.1002/mus.10053 · Cited by 433
Superoxide Anion Chemistry—Its Role at the Core of the Innate Immunity
Andrés, C. M. C., Pérez de la Lastra, J. M., Andrés Juan, C., Plou, F. J., & Pérez-Lebeña, E. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24031841 · Cited by 342
Mitochondrial iron–sulfur protein biogenesis and human disease
Stehling, O., Wilbrecht, C., & Lill, R. (2014) · Biochimie · doi:10.1016/j.biochi.2014.01.010 · Cited by 272
Maio, N., & Rouault, T. A. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2014.09.009 · Cited by 222
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Metadata
- Authors
- Drugge, U., Holmberg, M., Holmgren, G., Almay, B. G., & Linderholm, H.
- Affiliations
- Umeå University (SE)
- ORCID
- Holmberg, M
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1995-05
- Volume
- 32
- Issue
- 5
- Pages
- 344-347
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1050427
- OpenAlex
- W2152441305
- Cited by
- 26
- References
- 17
- Citations by year
- 2023: 1 · 2022: 3 · 2018: 2 · 2016: 1 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- succinate dehydrogenase deficiency, autosomal recessive inheritance, genealogy, family history, northern Sweden
- MeSH terms
- Acidosis, Lactic, Aconitate Hydratase, Adolescent, Female, Genes, Recessive, Humans, Genetic Linkage, Lod Score, Male, Pedigree, Succinate Dehydrogenase, Sweden, Mitochondrial Myopathies
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