A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy

Neuromuscular Disorders

Volumn 12, Issue 7-8, 2002, Pages 659-664

  Taylor, Robert W ^a   Schaefer, Andrew M ^a   McFarland, Robert ^a   Maddison, Paul ^b,c   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b PINDERFIELDS GENERAL HOSPITAL   (United Kingdom)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Mitochondrial DNA; Mitochondrial myopathy; Sporadic; tRNAIle gene

Indexed keywords

AMINO ACID RECEPTOR; CYTOCHROME C OXIDASE; ISOLEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; ATAXIA; BASE PAIRING; CASE REPORT; CHEEK MUCOSA; CLINICAL FEATURE; DISEASE COURSE; DNA DETERMINATION; FEMALE; GENE MUTATION; HAIR; HETEROPLASMY; HUMAN; LYMPHOCYTE; MITOCHONDRIAL MYOPATHY; PATHOGENICITY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; ALANINE; BIOPSY; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GERM-LINE MUTATION; GLYCINE; HUMANS; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; PEDIGREE; POLYMERASE CHAIN REACTION; RNA, TRANSFER, ILE;

EID: 0036787013     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00026-3     Document Type: Article

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