Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis
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DOI: 10.1111/cge.13701
Abstract: The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from… read more here.
Keywords: dna mutations; symmetric lipomatosis; dna; multiple symmetric ... See more keywords
Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant
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DOI: 10.1177/2324709618802867
Abstract: 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… read more here.
Keywords: multiple symmetric; family; madelung disease; 8344a variant ... See more keywords