Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy

JAMA Neurology

Volumn 70, Issue 12, 2013, Pages 1552-1555

  Spyropoulos, Achilles ^a   Manford, Mark ^b   Horvath, Rita ^a   Alston, Charlotte L ^c   Yu Wai Man, Patrick ^a   He, Langping ^c   Taylor, Robert W ^c   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THYMINE;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHEEK MUCOSA; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFECT; GENE MUTATION; GENE SEGREGATION; HAIR FOLLICLE; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRACTABLE EPILEPSY; MALE; MONOZYGOTIC TWINS; MTND6 GENE; MUSCLE TISSUE; MYOCLONUS EPILEPSY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PTOSIS; RESPIRATORY CHAIN; UROTHELIUM; VISUAL SYSTEM EXAMINATION; YOUNG ADULT;

EID: 84890414787     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.4111     Document Type: Article

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