MELAS syndrome: correlation between clinical features and molecular genetic analysis

Acta Neurologica Scandinavica

Volumn 90, Issue 5, 1994, Pages 354-359

  Liou, C W ^a   Huang, C C ^a   Chee, E C Y ^a   Jong, Y J ^b   Tsai, J L ^b   Pang, C Y ^c   Lee, H C ^c   Wei, Y H ^c  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

family survey; MELAS; mitochondrial DNA; ragged red fibers

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE REPORT; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FAMILIAL DISEASE; FEMALE; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE;

ADULT; BIOPSY; CASE REPORT; DNA, MITOCHONDRIAL; FEMALE; HUMAN; INCLUSION BODIES; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MICROSCOPY, ELECTRON; MITOCHONDRIA, MUSCLE; MUSCLES; MUTATION; NEUROLOGIC EXAMINATION; PEDIGREE; PHENOTYPE;

EID: 0028072138     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1994.tb02737.x     Document Type: Article

References (20)

1. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes: a distinctive clinical syndrome
2. Mitochondrial myopathies
3. The clinical features of mitcchondrial myopathy
4. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
5. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes)
6. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)
7. Mitochondrial encephalomyopathies: molecular genetic diagnosis from blood samples
8. Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
9. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
10. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS): a correlàtive study of the clinical features and mitochondrial DNA mutation
11. MELAS: clinical features, biochemistry, and molecular genetics
12. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS)
13. Evaluation of procedures for assaying oxidative phosphory‐lation enzyme activities in mitochondrial myopathies muscle biopsies
14. Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged‐red fiber disease (MERRF)
15. Ophthalmological manifestations in MELAS syndrome
16. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies
17. Hypoxia is associated with mitochondrial DNA damage and gene induction: implication for cardiac disease
18. Correlation between clinical and molecular features in two MELAS families
19. An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain
20. CT and MRI of MELAS syndrome