Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes

Neuromuscular Disorders

Volumn 13, Issue 5, 2003, Pages 416-420

  Campos, Y ^a   Garcia A ^a   Del Hoyo, P ^a   Jara, P ^a   Martin M A ^a   Rubio, J C ^a   Berbel, A ^b   Barbera J R ^b   Ribacoba, R ^c   Astudillo, A ^d   Cabello, A ^a   Ricoy, J R ^a   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b Hospital Mancha Centro   (Spain)

^c Hematology Department Hospital de Mieres   (Spain)

^d Hospital de Asturias   (Spain)

Author keywords

Cardiomyopathy; Mitochondrial diseases; Mitochondrial DNA; Mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes; Myopathy

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ENCEPHALOMYOPATHY; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; LABORATORY TEST; LACTIC ACIDOSIS; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE CELL; MYOPATHY; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; STROKE; TISSUE LEVEL;

EID: 0037498435     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00039-7     Document Type: Article

References (12)

1. DiMauro S., Bonilla E. Mitochondrial encephalomyopathies. Rosemberg R.N., Prusiner S.B., DiMauro S., Barchi R.L. The molecular and genetic basis of neurological diseases. 2nd ed. 1997;201-235 Butterworth-Heinemann, Boston, MA.
2. Schon E.A., Bonilla E., DiMauro S. Mitochondrial DNA and pathogenesis. J Bioenerg Biomemb. 29:1997;131-149.
3. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord. 12:2002;334-339.
4. Sciacco M., Bonilla E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Attardi G.M., Chomyn A. Methods in enzymology. Methods in enzymology. vol. 264:1996;509-521 Academic Press, San Diego, CA.
5. Ser(UCN) gene. Hum Mol Genet. 4:1995;1421-1427.
6. Rieder M.J., Taylor S.L., Tobe V., Nickerson D.A. Automatic identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 26:1998;967-973.
7. Anderson S., Bankier A.T., Barrel B.G., et al. Sequence and organization of the human mitochondrial genome. Nature. 290:1980;457-465.
8. Lys mutation in MERRF patients. Biochem Biophys Res Commun. 179:1991;880-885.
9. Leu(UUR) mutation in MELAS: genetic, biochemical and morphological correlations in skeletal muscle. Am J Hum Genet. 50:1992;934-949.
10. Sternberg D., Chatzoglou E., Laforet P., et al. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain. 124:2001;984-994.
11. Lys mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neuromuscul Disord. 10:2000;493-496.
12. Taylor R.W., Chinnery P.F., Haldane F., et al. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Ann Neurol. 40:1996;459-462.