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A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Carter D Wray1, Marisa W Friederich, Desiree du Sart

  • 1Department of Pediatrics, University of Colorado, 13121 East 17th Avenue, Aurora, CO 80045, USA; Division of Pediatric Neurology, Oregon Health Sciences Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

Mitochondrion
|September 26, 2013
PubMed

Keywords:
Coenzyme Q bindingEEGElectron transport chain complex 1HRMInfantile spasmsLHONLeber hereditary optic neuropathyLeigh diseaseMELASND1PAGEPCRelectroencephalogramhigh resolution meltmitochondrial DNAmitochondrial encephalomyopathy with lactic acidosis and stroke like episodesmtDNApolyacrylamide gel electrophoresispolymerase chain reaction

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