Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNASer(UCN) gene

Acta Neuropathologica

Volumn 110, Issue 4, 2005, Pages 426-430

  Müller, Tobias ^a   Deschauer, Marcus ^a   Neudecker, Stephan ^a   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

Author keywords

Mitochondrial myopathy; Muscular dystrophy; Transfer RNA mutations

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; SIBLING;

ADULT; ALANINE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; RNA; RNA, TRANSFER, SER;

EID: 27944465753     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-005-1063-z     Document Type: Article

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