Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies

Chinese Medical Journal

Volumn 114, Issue 12, 2001, Pages 1273-1275

  Song, D ^a   Zhang, Y ^a   Shi, J ^a   Lu Q ^a   Chen, J ^a   Zhang, H ^a   Zhang, W ^a   Wang, H ^a   Cai, Q ^a  

^a AIR FORCE GENERAL HOSPITAL   (China)

Author keywords

Mitochondrial DNA; Mitochondrial encephalomyopathies; Point mutation; Polymerase chain reaction; Restriction enzyme

Indexed keywords

DNA FRAGMENT; MITOCHONDRIAL DNA; OLIGONUCLEOTIDE; RESTRICTION ENDONUCLEASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DNA EXTRACTION; ELECTROPHORESIS; ENCEPHALOMYOPATHY; FEMALE; GENE AMPLIFICATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MUSCLE MITOCHONDRION; MYOCLONUS EPILEPSY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; POINT MUTATION;

EID: 0035673232     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Mitochondrial encephalomyopathies
2. A mitochondrial tRNA (Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis and stroke-like episodes
3. Mitochondrial myopathies: Genetic mechanisms
4. Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease
5. Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five bass pair recognition
6. Mitochondrial DNA and human evolution
7. MELAS: Clinical features, biochemistry, and molecular genetics
8. MELAS: Clinical, pathologic and genetic studies
9. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
10. Mitochondrial myopathy and mitochondrial encephalomyopathies: Ultrastructural study using protein-A-colloidal gold labeling method