Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

Brain

Volumn 120, Issue 10, 1997, Pages 1713-1721

  Chinnery, Patrick F ^a   Howell, Neil ^b   Lightowlers, Robert N ^a   Turnbull, Douglass M ^a,c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b University of Texas Medical Branch School of Medicine   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Chronic progressive external ophthalmoplegia; Heteroplasmy; MELAS; MERRF; Mitochondrial encephalomyopathies

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CLINICAL FEATURE; ENCEPHALOMYOPATHY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MEASUREMENT; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL RESPIRATION; MOLECULAR BIOLOGY; PATHOLOGY; PATIENT COUNSELING; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY CHAIN;

DNA, MITOCHONDRIAL; GENETICS, POPULATION; HUMANS; MELAS SYNDROME; MERRF SYNDROME; MUTATION; PHENOTYPE;

EID: 0030791665     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.10.1713     Document Type: Article

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