A case of childhood onset myoclonus epilepsy with ragged-red fibers - With special reference to various clinical manifestations

No To Hattatsu

Volumn 34, Issue 5, 2002, Pages 427-430

  Ohinata, Junko ^a   Hasegawa, Takeshi ^a   Kohyama, Jun ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER; CYTOCHROME C; CYTOCHROME C OXIDASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; COPPER DEFICIENCY; EPILEPSY; FEMALE; HUMAN; ILEUS; LACTIC ACIDOSIS; MERRF SYNDROME; MUSCLE WEAKNESS; MYOCLONUS EPILEPSY; PANCYTOPENIA; RESPIRATORY FAILURE; SCHOOL CHILD;

ADOLESCENT; CHILD; COPPER; CYTOCHROME C GROUP; FEMALE; HUMANS; MERRF SYNDROME;

EID: 0036036537     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature
2. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation
3. A common mitochondrial DNA mutation in the t-RNA (Lys) of patients with myoclonus epilepsy associated with ragged-red fibers
4. Clinicopathological features of MERRF
5. The 8,344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinico-pathologic findings
6. Respiratory patterns during sleep in mitochondrial myopathies with ophthalmoplegia
7. Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction
8. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutation
9. Treatment of mitochondrial encephalomyopathy with a combination of cytochrome c and vitamins B1 and B2
10. Rapid development of severe copper deficiency in a patient with Crohn's desease receiving parenteral nutrition
11. Pancytopenia after removal of copper from total parenteral nutrition