Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

[1]  Y. Qi,et al.  Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families , 2010, Journal of the Neurological Sciences.

[2]  P. Chinnery,et al.  The inheritance of pathogenic mitochondrial DNA mutations , 2009, Biochimica et biophysica acta.

[3]  A. Fayssoil Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. , 2009, Congestive heart failure.

[4]  S. Collins,et al.  Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection , 2009, Journal of Clinical Neuroscience.

[5]  Y. Qi,et al.  The study of mitochondrial A3243G mutation in different samples. , 2009, Mitochondrion.

[6]  D. Turnbull,et al.  URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION , 2009, Neurology.

[7]  D. Bonneau,et al.  Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. , 2008, Diabetes & metabolism.

[8]  S. Dib,et al.  Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. , 2008, Arquivos brasileiros de endocrinologia e metabologia.

[9]  A. Bird,et al.  Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. , 2008, Archives of ophthalmology.

[10]  Pancreas Alerts Mitochondrial DNA A 3243 G Mutation Involved in Familial Diabetes , Chronic Intestinal Pseudo-Obstruction and Recurrent Pancreatitis , 2008 .

[11]  P. Mitchell,et al.  Population prevalence of the MELAS A3243G mutation. , 2007, Mitochondrion.

[12]  R. Rodenburg,et al.  Early cardiac involvement in children carrying the A3243G mtDNA mutation , 2006, Acta paediatrica.

[13]  G. Uziel,et al.  A scale to monitor progression and treatment of mitochondrial disease in children , 2006, Neuromuscular Disorders.

[14]  D. Turnbull,et al.  Mitochondrial disease in adults: A scale to monitor progression and treatment , 2006, Neurology.

[15]  K. Kyvik,et al.  Tissue specific distribution of the 3243A→G mtDNA mutation , 2006, Journal of Medical Genetics.

[16]  J. Wetzels,et al.  Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. , 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[17]  F. Mauguière,et al.  Polymorphisme de l’épilepsie associée à la mutation A3243G de l’ADN mitochondrial (MELAS) : la raison d’un diagnostic tardif , 2004 .

[18]  F. Mauguière,et al.  [Polymorphism of epilepsy associated with the A3243G mutation of mitochondrial DNA (MELAS): reasons for delayed diagnosis]. , 2004, Revue neurologique (Paris).

[19]  E. Leshinsky‐Silver,et al.  Clinical Presentations of Mitochondrial Cardiomyopathies , 2004, Pediatric Cardiology.

[20]  Shana O Kelley,et al.  Impact of disease-related mitochondrial mutations on tRNA structure and function. , 2003, Trends in biochemical sciences.

[21]  D. Turnbull,et al.  Epidemiology and treatment of mitochondrial disorders. , 2001, American journal of medical genetics.

[22]  S. Rahman,et al.  Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. , 2001, American journal of human genetics.

[23]  D. Turnbull,et al.  The epidemiology of pathogenic mitochondrial DNA mutations , 2000, Annals of neurology.

[24]  H. Gin,et al.  Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. , 1999, Ophthalmology.

[25]  K. Majamaa,et al.  Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. , 1998, American journal of human genetics.

[26]  D. Turnbull,et al.  Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. , 1997, Brain : a journal of neurology.

[27]  J. Maassen,et al.  Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness , 1992, Nature Genetics.

[28]  K. Nihei,et al.  Respiration-deficient Cells AreCausedbya Single Point Mutation intheMitochondrial tRNA-Leu(UUR)Genein Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, andStrokelike Episodes (MELAS) , 1991 .

[29]  K. Nihei,et al.  A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). , 1990, Biochemical and biophysical research communications.

[30]  I. Nonaka,et al.  A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies , 1990, Nature.

[31]  S. Dimauro,et al.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome , 1984, Annals of neurology.