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Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple
Y Campos1, M A Martín, C Navarro
1Centro de Investigatión, Hospital 12 de Octubre, Madrid, Spain.
Neurology
|October 1, 1996
Abstract:
In a nonalcoholic woman with multiple symmetric lipomatosis (MSL), muscle histochemistry showed ragged-red fibers and cytochrome c oxidase negative fibers. Southern blot analysis revealed a single deletion of mitochondrial DNA (mtDNA). We suggest that MSL is an uncommon manifestation of the wide clinical spectrum of mitochondrial disorders, in particular of those associated with single mtDNA deletions.