Term ID: 31237
Name: Internally nucleated skeletal muscle fibers
Synonym: Internally nucleated skeletal muscle fibres
Definition: 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.
Comments:
Reference: HP:0031237
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal muscle fiber protein expression (HP:0030089) ..Abnormal muscle glycogen content (HP:0012269) ..Abnormality of skeletal muscle fiber size (HP:0012084) ..Autophagic vacuoles (HP:0003736) ..Central core regions in muscle fibers (HP:0030230) ..Centrally nucleated skeletal muscle fibers (HP:0003687) ..Deposits immunoreactive to beta-amyloid protein (HP:0003791) ..Hypertrophied muscle fibers (HP:0100293) ..Increased endomysial connective tissue (HP:0100297) ..Increased muscle lipid content (HP:0009058) ..Motheaten muscle fibers (HP:0100298) ..Muscle fiber atrophy (HP:0100295) ..Muscle fiber inclusion bodies (HP:0100299) ..Muscle fiber necrosis (HP:0003713) ..Muscle fiber splitting (HP:0003555) ..Myelin-like whorls in vacuolated fibers (HP:0031542) ..Necklace skeletal muscle fibers (HP:0031238) ..Perifascicular muscle fiber atrophy (HP:0100296) ..Ragged-red muscle fibers (HP:0003200) ..Reduced muscle carnitine level (HP:0030362) ..Rimmed vacuoles (HP:0003805) ..Ring fibers (HP:0100305) ..Type 1 muscle fiber predominance (HP:0003803) ..Type 2 muscle fiber predominance (HP:0010602) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 ACTN2 CL E G H 88 164 OMIM:618654 MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ 307 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 ACTN2 CL E G H 88 164 OMIM:618655 MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 307 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 ANO5 CL E G H 203859 27337 ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0040282 - Frequent 304 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 LAMA2 CL E G H 3908 6482 OMIM:618138 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 411 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 NOTCH2NLC CL E G H 100996717 53924 OMIM:619473 OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 RYR1 CL E G H 6261 10483 ORPHA:324581 Benign Samaritan congenital myopathy HP:0040283 - Occasional 1200 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 RYR1 CL E G H 6261 10483 ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia HP:0040282 - Frequent 1200 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 SQSTM1 CL E G H 8878 11280 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV 62 HP:0031237 HP:0031237 Internally nucleated skeletal muscle fibers 0 TTN CL E G H 7273 12403 ORPHA:178464 Hereditary myopathy with early respiratory failure HP:0040282 - Frequent 7128
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
