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Disorders of mitochondrial DNA (mtDNA) maintenance are a major cause of sporadic and inherited neurologic disease,1 but the underlying nuclear gene defects have yet to be identified in many patients. Following the recent description of multiple mtDNA deletions in seven families with mutations in OPA1,2–4 we determined the frequency of OPA1 mutations in adult patients with multiple mtDNA deletions who did not have mutations in POLG1, POLG2, SLC25A4, and PEO1.
Methods.
OPA1 and exon-intron boundaries was sequenced in 21 probands with a mosaic defect of cytochrome c oxidase (COX) and multiple deletions of mtDNA in skeletal muscle (table; e-methods on the Neurology® Web site at www.neurology.org).
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Table Clinical, histochemical, and genetic findings in 21 probands
Results.
Eighteen patients had synonymous substitutions in OPA1, or single nucleotide polymorphisms (SNPs) present in >1% of the control population (tables e-1 and e-2). c.575C>T was detected in 3.5% of 144 matched population controls (95% CI = 1.8–6.4). Pathogenic variants were detected in three subjects (14.2% of the 21): c.1334G>A/p.R445H in patients 16 and 20 …
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