Human Gene Set: HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS


Standard name HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS
Systematic name M41536
Brief description Internally nucleated skeletal muscle fibers
Full description or abstract An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. [PMID:22938878]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0031237
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0031237
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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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