Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation [3]

Journal of Neurology

Volumn 254, Issue 9, 2007, Pages 1283-1285

  Blakely, Emma L ^a   Swalwell, Helen ^a   Petty, Richard K H ^b   McFarland, Robert ^a   Turnbull, Douglass M ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b SOUTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; BLOOD EXAMINATION; CASE REPORT; COLON CARCINOMA; DIABETES MELLITUS; DIET; ELECTROMYOGRAPHY; GENE LOCUS; GENE SEQUENCE; HISTOCHEMISTRY; HUMAN; HYPERTENSION; LEG PAIN; LETTER; MALE; MERRF SYNDROME; MNGIE SYNDROME; MTTK GENE; MUSCLE BIOPSY; MYOPATHY; NERVE CONDUCTION; PATHOGENICITY; PRIORITY JOURNAL; PTOSIS; STUDENT T TEST; TWO TAILED TEST;

BLEPHAROPTOSIS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EXERCISE TOLERANCE; HUMANS; INTERMITTENT CLAUDICATION; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR DISEASES; MUTATION; RNA, TRANSFER, LYS;

EID: 34548245437     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0490-7     Document Type: Letter

References (7)

1. Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nature Rev Genet 6:389-402
2. DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668
3. Lys mutation. Cell 61:931-937
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5. Lys gene. Ann Neurol 54:820-823
6. Lys gene (G8363A). Am J Hum Genet 58:933-939
7. Lys gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring. Hum Mutat 13:203-209