A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy

Neuromuscular Disorders

Volumn 17, Issue 5, 2007, Pages 415-418

  Maeso, E ^a   Rueda, A ^b   Jimenez S ^a   del Hoyo, P ^a   Martin R ^a   Cabello, A ^a   Mendoza, L M ^a   Arenas, J ^a   Campos, Y ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL UNIVERSITARIO DE GETAFE   (Spain)

Author keywords

Mitochondria; Mitochondrial diseases; Mitochondrial DNA; Ocular myopathy; Transfer RNA Leu (UUR)

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

AGED; ARTICLE; BASE PAIRING; BRAIN ATROPHY; CASE REPORT; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; GENOME; HUMAN; HYPOREFLEXIA; MUSCLE BIOPSY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PATHOGENICITY; PRIORITY JOURNAL; PTOSIS;

AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; RNA, TRANSFER, LEU;

EID: 34247566139     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.01.015     Document Type: Article

References (10)

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