Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNAphe gene

Neuromuscular Disorders

Volumn 16, Issue 8, 2006, Pages 504-506

  Darin, N ^a   Kollberg, G ^a   Moslemi, A R ^a   Tulinius, M ^a   Holme, E ^a   Grönlund, M Andersson ^a   Andersson, S ^a   Oldfors, A ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Mitochondrial; mtDNA; Mutation; Myopathy; Retinal dystrophy; tRNAphe

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADOLESCENT; ARTICLE; CASE REPORT; EXERCISE TOLERANCE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCLE CELL; PRIORITY JOURNAL; RETINA DYSTROPHY;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX IV; EXERCISE TOLERANCE; FEMALE; HUMANS; MITOCHONDRIAL MYOPATHIES; MUSCLE FIBERS; MUSCLE FIBERS, SKELETAL; MUSCLE WEAKNESS; MUTATION; RETINA; RETINAL ARTERY; RETINAL DISEASES; RNA; RNA, TRANSFER, PHE;

EID: 33748302054     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.05.010     Document Type: Article

References (10)

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