A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy

Neuromuscular Disorders

Volumn 11, Issue 5, 2001, Pages 477-480

  Campos, Y ^a   Gamez J ^b   Garcia A ^a   Andreu, A L ^c   Rubio, J C ^a   Martin M A ^a   Del Hoyo, P ^a   Navarro, C ^d   Cervera, C ^b   Garesse, R ^e   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d Department of Pathology   (Spain)

^e INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

Author keywords

Mitochondrial diseases; Mitochondrial DNA; Ocular myopathy

Indexed keywords

CREATINE KINASE; CYTOCHROME C OXIDASE; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; ELECTROMYOGRAPHY; EYE DISEASE; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE CELL; MYOPATHY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS;

BASE SEQUENCE; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; POINT MUTATION; RNA, TRANSFER, LEU;

EID: 0034991798     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00223-6     Document Type: Article

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8. Lys mutation in MERRF patients
9. Leu(UUR) mutation in MELAS: Genetic, biochemical and morphological correlations in skeletal muscle
10. Asn