Human Gene Set: HP_RAGGED_RED_MUSCLE_FIBERS


Standard name HP_RAGGED_RED_MUSCLE_FIBERS
Systematic name M36216
Brief description Ragged-red muscle fibers
Full description or abstract 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. [https://orcid.org/0000-0002-0736-9199, PMID:12075011, PMID:16537564]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003200
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External links https://hpo.jax.org/app/browse/term/HP:0003200
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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