Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA

Brain

Volumn 128, Issue 8, 2005, Pages 1861-1869

  Kärppä, Mikko ^a,b   Herva, Riitta ^c   Moslemi, Ali Reza ^e   Oldfors, Anders ^e   Kakko, Sakari ^d   Majamaa, Kari ^a,b,f  

^a UNIVERSITY OF OULU   (Finland)

^b Clinical Research Center   (Finland)

^c Department of Pathology ^*  (Finland)

^d OULU UNIVERSITY HOSPITAL   (Finland)

^e SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF TURKU   (Finland)

Author keywords

Clinical laboratory techniques; MELAS; Mitochondrial myopathies; Muscle fibres; Ultrastructure

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CLINICAL EXAMINATION; COHORT ANALYSIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; HETEROPLASMY; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INCIDENCE; INTERVIEW; MALE; MUSCLE CELL; MUSCLE WEAKNESS; MYOPATHY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; ADOLESCENT; BLOOD; ELECTRON MICROSCOPY; EXERCISE; GENETICS; MELAS SYNDROME; METHODOLOGY; MIDDLE AGED; MITOCHONDRIAL MYOPATHY; MUTATION; ONSET AGE; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; COHORT STUDIES; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; EXERTION; FEMALE; HUMANS; MALE; MELAS SYNDROME; MICROSCOPY, ELECTRON; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; PHENOTYPE;

EID: 23444461931     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh515     Document Type: Article

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