A novel mutation in the mitochondrial tRNAAsn gene associated with a lethal disease

Biochemical and Biophysical Research Communications

Volumn 329, Issue 3, 2005, Pages 1152-1154

  Coulbault, Laurent ^a   Herlicoviez, Danielle ^a   Chapon, Françoise ^a   Read, Marie Hélène ^a   Penniello, Marie José ^a   Reynier, Pascal ^b   Fayet, Guillemette ^c   Lombès, Anne ^c   Jauzac, Philippe ^a   Allouche, Stéphane ^a  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cytochrome c oxidase deficiency; Lethal infantile mitochondrial disease; mtDNA; Respiratory chain deficiency; tRNAAsn gene mutation

Indexed keywords

ASPARAGINE; CYTIDINE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; THYMINE; TRANSFER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; ENCEPHALOMYOPATHY; FIBER; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; INFANT; LETHALITY; MALE; MICRODISSECTION; MUSCLE BIOPSY; PRIORITY JOURNAL; SKELETAL MUSCLE;

EID: 20044379956     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.02.083     Document Type: Article

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