ragged-red muscle fibers Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. (Human Phenotype Ontology, HP_0003200)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003200
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Genes

12 genes associated with the ragged-red muscle fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
C10ORF2 chromosome 10 open reading frame 2
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
MYH7 myosin, heavy chain 7, cardiac muscle, beta
POLG polymerase (DNA directed), gamma
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TK2 thymidine kinase 2, mitochondrial
TYMP thymidine phosphorylase