Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

Neurology

Volumn 65, Issue 3, 2005, Pages 453-455

  Durham, S E ^a   Bonilla, E ^b   Samuels, D C ^c   DiMauro, S ^b   Chinnery, P F ^a,d  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Columbia University College of Physicians and Surgeons ^*  (United States)

^c VIRGINIA BIOINFORMATICS INSTITUTE   (United States)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; THYMIDINE KINASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC HETEROGENEITY; HISTOCHEMISTRY; HUMAN; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; SIBLING;

EID: 23244442403     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000171861.30277.88     Document Type: Article

References (8)

1. Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-341.
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3. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-344.
4. Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004;55:706-712.
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6. Barthelemy C, Ogier de Baulny H, Diaz J, et al. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation. Ann Neurol 2001;49:607-617.
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8. Nishigaki Y, Marti R, Copeland WC, Hirano M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest 2003;111:1913-1921.