Erratum: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation (J Inherit Metab Dis, (2012) 35, 6 (1059-1069), 10.1007/s10545-012-9465-2);Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

Journal of Inherited Metabolic Disease

Volumn 35, Issue 6, 2012, Pages 1059-1069

  De Laat, Paul ^a   Koene, Saskia ^a   Van Den Heuvel, Lambert P W J ^a   Rodenburg, Richard J T ^a   Janssen, Mirian C H ^a   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CARDIOMYOPATHY; CHEEK MUCOSA; CHILD; DIABETES MELLITUS; DISEASE SEVERITY; EPILEPSY; EPITHELIUM CELL; EXERCISE TOLERANCE; FEMALE; GASTROINTESTINAL DISEASE; GENE MUTATION; GLUCOSE INTOLERANCE; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MATERNALLY INHERITED DIABETES AND DEAFNESS; MELAS SYNDROME; MYOPATHY; NETHERLANDS; NEUROLOGIC DISEASE; NEWCASTLE MITOCHONDRIAL DISEASE ADULT SCALE; NEWCASTLE PEDIATRIC MITOCHONDRIAL DISEASE SCALE; PRESCHOOL CHILD; PTOSIS; SCHOOL CHILD; SCORING SYSTEM;

EID: 84867847316     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9510-1     Document Type: Erratum

References (28)

1. Bergamin CS, Rolim LC, Dib SA, Moises RS (2008) Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. Arquivos brasileiros de endocrinol e metabol 52:1345-1349
2. Chinnery PF, Turnbull DM (2001) Epidemiology and treatment of mitochondrial disorders. Am j med genet 106:94-101
3. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120(Pt 10):1713-1721
4. Chinnery PF, Johnson MA, Wardell TM, et al.(2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48:188-193
5. Cree LM, Samuels DC, Chinnery PF (2009) The inheritance of pathogenic mitochondrial DNA mutations. Biochim Biophys Acta 1792:1097-1102
6. Durand-Dubief F, Ryvlin P, Mauguiere F (2004) Polymorphism of epilepsy associated with the A3243G mutation of mitochondrial DNA (MELAS): reasons for delayed diagnosis. Rev Neurol 160:824-829
7. Fayssoil A (2009) Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. Congest heart fail Greenwich Conn 15:284-287
8. Frederiksen AL, Andersen PH, Kyvik KO, Jeppesen TD, Vissing J, Schwartz M (2006) Tissue specific distribution of the 3243A- > G mtDNA mutation. J med genet 43:671-677
9. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651-653
10. Kobayashi Y, Momoi MY, Tominaga K, et al.(1990) A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173:816-822
11. Lev D, Nissenkorn A, Leshinsky-Silver E, et al.(2004) Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 25:443-450
12. Lowik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP (2005) Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant 20:336-341
13. Ma Y, Fang F, Yang Y, et al.(2009) The study of mitochondrial A3243G mutation in different samples. Mitochondrion 9:139-143
14. Ma Y, Fang F, Cao Y, et al.(2010) Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families. J Neurol Sci 291(1):17-21
15. Majamaa K, Moilanen JS, Uimonen S, et al.(1998) Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 63:447-454
16. Manwaring N, Jones MM, Wang JJ, et al.(2007) Population prevalence of the MELAS A3243G mutation. Mitochondrion 7:230-233
17. Marotta R, Reardon K, McKelvie PA, et al.(2009) Association of the MELAS m.3243A > G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection. J Clin Neurosci 16:1223-1225
18. Massin P, Virally-Monod M, Vialettes B, et al.(1999) Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. Ophthalmology 106:1821-1827
19. Michaelides M, Jenkins SA, Bamiou DE, et al.(2008) Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. Arch Ophthalmol 126:320-328
20. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:481-488
21. Phoenix C, Schaefer AM, Elson JL, et al.(2006) A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord 16:814-820
22. Rahman S, Poulton J, Marchington D, Suomalainen A (2001) Decrease of 3243 A- > G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 68:238-240
23. Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM (2006) Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology 66:1932-1934
24. van den Ouweland JM, Lemkes HH, Ruitenbeek W, et al.(1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368-371
25. Verny C, Amati-Bonneau P, Letournel F, et al.(2008) Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Diabetes metabol 34:620-626
26. Whittaker RG, Blackwood JK, Alston CL, et al.(2009) Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A > G mtDNA mutation. Neurology 72:568-569
27. Wittenhagen LM, Kelley SO (2003) Impact of disease-related mitochondrial mutations on tRNA structure and function. Trends Biochem Sci 28:605-611
28. Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E (2007) Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr 96:450-451