Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Gehrig, Saskia Maria ^a,b   Mihaylova, Violeta ^a   Frese, Sebastian ^a   Mueller, Sandro Manuel ^a   Ligon Auer, Maria ^a   Spengler, Christina M ^b,c   Petersen, Jens A ^a   Lundby, Carsten ^b   Jung, Hans H ^a,b  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c ETH ZURICH   (Switzerland)

Author keywords

Bioenergetics; Fat oxidation; Mitochondria; Mitochondrial cytopathy; Neuromuscular disease; Skeletal muscle phenotype

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; COMPLEX II DEFICIENCY; COMPLEX III DEFICIENCY; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE ASSOCIATION; FEMALE; GENE DELETION; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MITOCHONDRIAL VOLUME DENSITY; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; RESPIROMETRY; SKELETAL MUSCLE; TOTAL LUNG CAPACITY; BODY COMPOSITION; ENERGY METABOLISM; EXERCISE TEST; GENETICS; METABOLISM; NEUROMUSCULAR DISEASE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ADULT; BODY COMPOSITION; DNA, MITOCHONDRIAL; ENERGY METABOLISM; EXERCISE TEST; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; NEUROMUSCULAR DISEASES;

EID: 84980384034     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0488-x     Document Type: Article

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