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Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant

Background. Multiple symmetric lipomatosis (MSL), also known as Madelung disease, is a rare adult-onset disorder characterized by benign lipomatosis usually localized to the nuchal and upper thoracic region. A subset of these patients has germline variants in mitochondrial DNA. Methods. Three siblin...

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Bibliografische gegevens
Gepubliceerd in:J Investig Med High Impact Case Rep
Hoofdauteurs: Perera, Uththara, Kennedy, Brooke A., Hegele, Robert A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: SAGE Publications 2018
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6166310/
https://ncbi.nlm.nih.gov/pubmed/30283804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2324709618802867
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