The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

Annals of Neurology

Volumn 49, Issue 3, 2001, Pages 377-383

  Darin, Niklas ^a   Oldfors, Anders ^b   Moslemi, Ali Reza ^b   Holme, Elisabeth ^b   Tulinius, Mr ^a  

^a QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FEMALE; HUMAN; INCIDENCE; LEIGH DISEASE; MALE; MEDICAL RECORD; METABOLIC DISORDER; MITOCHONDRIAL MYOPATHY; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; SWEDEN;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INCIDENCE; INFANT; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; SURVIVAL ANALYSIS;

EID: 0035092240     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.75     Document Type: Article

References (33)

1. Does the patient have a mitochondrial encephalomyopathy?
2. Mitochondrial diseases in man and mouse
3. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?
4. Mitochondrial encephalomyopathies in childhood: I. Biochemical and morphologic investigations
5. Mitochondrial Encephalomyopathies
6. Neurological presentations of mitochondrial diseases
7. Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden
8. Subacute necrotizing encephalomyelopathy in an infant
9. Leigh syndrome: Clinical features and biochemical and DNA abnormalities
10. MR of Leigh's disease (subacute necrotizing encephalomyelopathy)
11. Progressive neuronal degeneration of childhood with liver disease: A pathological study
12. Progressive neuronal degeneration of childhood with liver disease (Alpers-Hutrenlocher syndrome) a personal review
13. Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): Characteristic neurophysiological features
14. EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases
15. Progressive neuronal degeneration of childhood with liver disease. Computed tomographic features
16. Mitochondrial myopathies
17. MELAS: Clinical features, biochemistry, and molecular genetics
18. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
19. Calculating confidence intervals for rates and ratios: Simplified method utilizing tabular values based on the Poisson distribution
20. The epidemiology of pathogenic mitochondrial DNA mutations
21. Mitochondrial encephalomyopathies in childhood: II. Clinical manifestations and syndromes
22. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
23. Arypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions
24. Fatal mirochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A → G mutation at position 3251 in rhe mitochondrial tRNALeu(UUR) gene
25. Generic heterogeneity in Leigh syndrome
26. Progressive infantile poliodystrophy: Association with disturbed pyruvate oxidation in muscle and liver
27. Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy
28. Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: A report of two unrelated patients
29. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome
30. Hereditary mirochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debre syndrome, and a defective respiratory chain in voluntary striated muscles
31. Cytochrome c oxidase deficiency
32. Presentation and clinical investigation of mitochondrial respiratory chain disease: A study of 51 patients
33. The clinical fearures of mitochondrial myoparhy