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Literature DB >> 2895391

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.

P Lestienne, G Ponsot.

Abstract

Entities: Disease

Mesh：

Substances：
DNA, Mitochondrial

Year: 1988 PMID： 2895391 DOI： 10.1016/s0140-6736(88)91632-7

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

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Cited

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65 in total

1. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors: S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal: J Inherit Metab Dis Date: 1999-12 Impact factor: 4.982

2. Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.

Authors: Ali Yilmaz; Hans-Jürgen Gdynia; Matthias Ponfick; Sabine Rösch; Alfred Lindner; Albert C Ludolph; Udo Sechtem
Journal: Clin Res Cardiol Date: 2011-12-06 Impact factor: 5.460

3. Detection of a specific mitochondrial DNA deletion in tissues of older humans.

Authors: G A Cortopassi; N Arnheim
Journal: Nucleic Acids Res Date: 1990-12-11 Impact factor: 16.971

4. Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.

Authors: D D de Vries; W Ruitenbeek; B A van Oost
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

10. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Authors: J M Shoffner; M T Lott; A S Voljavec; S A Soueidan; D A Costigan; D C Wallace
Journal: Proc Natl Acad Sci U S A Date: 1989-10 Impact factor: 11.205

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.

1. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

2. Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.

3. Detection of a specific mitochondrial DNA deletion in tissues of older humans.

4. Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.

Review 5. Mitochondrial tRNA 3' end metabolism and human disease.

6. Neuropathology in Kearns-Sayre syndrome.

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

8. [Kearns-Sayre syndrome : a mitochondrial disease (OMIM #530000)].

9. Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

10. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.