Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA

Mitochondrion

Volumn 13, Issue 2, 2013, Pages 83-86

  Martikainen, Mika H ^a   Kytövuori, Laura ^b,c   Majamaa, Kari ^b,c  

^a TURKU UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF OULU   (Finland)

^c OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Hypogonadism; Leigh syndrome; Mitochondrial disease; Parkinsonism; TRNA isoleucine

Indexed keywords

ISOLEUCINE TRANSFER RNA; LEVODOPA; MITOCHONDRIAL DNA; TESTOSTERONE;

ADOLESCENT; AGGRESSIVENESS; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN EDEMA; BRAIN NECROSIS; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; DNA SEQUENCE; ELECTROENCEPHALOGRAM; FAMILY HISTORY; GENE; GENE MUTATION; GENETIC CODE; HETEROPLASMY; HUMAN; HYPOGONADISM; LEIGH DISEASE; MALE; MT TI GENE; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; RESTLESSNESS; SIDE EFFECT;

ADOLESCENT; BRAIN; DNA, MITOCHONDRIAL; EUNUCHISM; GENOME, MITOCHONDRIAL; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; PARKINSONIAN DISORDERS; POINT MUTATION; RNA, TRANSFER, ILE; SEQUENCE ANALYSIS, DNA;

EID: 84874564550     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.01.012     Document Type: Article

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