Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with different genetics;Familiäre mitochondriale chronisch progressive externe ophthalmoplegie. Fünf familien mit unterschiedlicher genetik

Nervenarzt

Volumn 72, Issue 2, 2001, Pages 122-129

  Deschauer, M ^a   Muller T ^a   Dreha, S ^a   Zierz, S ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

Familial external ophthalmoplegia; Genetics; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; ENCEPHALOMYOPATHY; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL DISEASE; GENE DELETION; HUMAN; OPHTHALMOPLEGIA; POINT MUTATION;

ADULT; AGED; AGED, 80 AND OVER; BLEPHAROPTOSIS; DIPLOPIA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 0035116604     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001150050724     Document Type: Article

References (22)

1. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distict pathogeneses
2. Mitochondrial encephalopathy with multiple deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features
3. Mitochondrial 3243A→G mutation (MELAS mutation) associated with painful muscle stiffness
4. Mitochondrial myopathies
5. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
6. Point mutations in mitochondrial tRNA genes: Sequence analysis of chronic progressiv external ophthalmoplegia
7. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
8. Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
9. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
10. Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases
11. Chronic progressive external ophthalmoplegia with ragged-red fibers: Clinical, morphological and genetic investigations in 43 patients
12. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
13. GCG repeats and phenotype in oculopharyngeal muscular dystrophy
14. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
15. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients
16. Multiple mtDNA deletions: Clinical and molecular correlations
17. Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene
18. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes and deafness
19. Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A->G transition) occur in the mother of a proband of a Japanese MELAS pedigree?
20. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting atthe D-loop region
21. Ophthamoplegia-plus: Klinische variabilität, biochemische defekte der mitochondrialen atmungskette und deletionen des mitochondrialen genoms