Clinical spectrum and diagnosis of mitochondrial disorders (Q34386724)

1 August 2017

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title

Clinical spectrum and diagnosis of mitochondrial disorders (English)

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1 August 2017

Munnich A

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1 August 2017

Rustin P

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1 August 2017

language of work or name

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1 January 2001

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American Journal of Medical Genetics Part A

1 August 2017

published in

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1 August 2017

volume

106

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1 August 2017

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1 August 2017

page(s)

4-17

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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 August 2017

cites work

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A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

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An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

21 January 2018

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Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome

21 January 2018

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

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Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

21 January 2018

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Craniofacial anomalies and malformations in respiratory chain deficiency

21 January 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

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Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

21 January 2018

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Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

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Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics

21 January 2018

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Mitochondrial diabetes mellitus: a review

21 January 2018

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Multiple syndromes of 3-methylglutaconic aciduria

21 January 2018

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

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A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

21 January 2018

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

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A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

21 January 2018

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

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The release of cytochrome c from mitochondria: a primary site for Bcl-2 regulation of apoptosis

21 January 2018

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Human deafness dystonia syndrome is a mitochondrial disease

21 January 2018

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Mitochondrial cardiomyopathy: molecular and biochemical analysis

21 January 2018

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Cytochrome c oxidase assay in minute amounts of human skeletal muscle using single wavelength spectrophotometers

21 January 2018

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

21 January 2018

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Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

21 January 2018

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A new point mutation associated with mitochondrial encephalomyopathy

21 January 2018

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Clinical presentation of mitochondrial disorders in childhood.

21 January 2018

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Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

21 January 2018

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

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Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)

21 January 2018

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Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

21 January 2018

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Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

21 January 2018

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Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

21 January 2018

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

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A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

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Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

21 January 2018

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Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

21 January 2018

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Morphological studies of skeletal muscle in lactic acidosis

21 January 2018

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

21 January 2018

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Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

21 January 2018

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Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

21 January 2018

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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

21 January 2018

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Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

21 January 2018

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

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Practical problems in detecting abnormal mitochondrial function and genomes

21 January 2018

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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene

21 January 2018

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In vivo functional investigations of lactic acid in patients with respiratory chain disorders

21 January 2018

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Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

21 January 2018

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Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex

21 January 2018

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

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Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

21 January 2018

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

21 January 2018

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Mutations in SURF1 are not specifically associated with Leigh syndrome

21 January 2018

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Mitochondrial DNA sequence variation in human evolution and disease.

21 January 2018

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Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked

21 January 2018

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Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

21 January 2018

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KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

21 January 2018

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

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Refractory anaemia and mitochondrial cytopathy in childhood

21 January 2018

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Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

21 January 2018

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Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

21 January 2018

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Mitochondrial diabetes revisited

21 January 2018

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Hair and Skin Disorders as Signs of Mitochondrial Disease

21 January 2018

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Reference charts for respiratory chain activities in human tissues

21 January 2018

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Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation

21 January 2018

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Clinical spectrum of the MELAS mutation in a large pedigree.

21 January 2018

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VACTERL with the mitochondrial np 3243 point mutation

21 January 2018

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Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

21 January 2018

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Cytochrome c oxidase deficiency

21 January 2018

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Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

21 January 2018

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Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

21 January 2018

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Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

21 January 2018

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Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

21 January 2018

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Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications

21 January 2018

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Mitochondrial DNA: does more lead to less?

21 January 2018

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Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

21 January 2018

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Assessment of mitochondrial function and control in normal and diseased states

21 January 2018

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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

21 January 2018

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Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

21 January 2018

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Biochemical and molecular investigations in respiratory chain deficiencies

21 January 2018

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Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies

21 January 2018

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Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA

21 January 2018

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Macular dystrophy, diabetes, and deafness associated with a large mitochondrial dma deletion

21 January 2018

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Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes

21 January 2018

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Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

21 January 2018

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Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

21 January 2018

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Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain

21 January 2018

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Prevalence of mitochondrial gene mutations in families with diabetes mellitus

21 January 2018

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Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

21 January 2018

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Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain

21 January 2018

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1391

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1 August 2017

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