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Xu, C. Intranuclear Rod Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4213 (accessed on 26 September 2026).
Xu C. Intranuclear Rod Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4213. Accessed September 26, 2026.
Xu, Camila. "Intranuclear Rod Myopathy" Encyclopedia, https://encyclopedia.pub/entry/4213 (accessed September 26, 2026).
Xu, C. (2020, December 23). Intranuclear Rod Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/4213
Xu, Camila. "Intranuclear Rod Myopathy." Encyclopedia. Web. 23 December, 2020.
Intranuclear Rod Myopathy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy

Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.

genetic conditions

References

  1. Feng JJ, Marston S. Genotype-phenotype correlations in ACTA1 mutations thatcause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. doi:10.1016/j.nmd.2008.09.005.
  2. Kaimaktchiev V, Goebel H, Laing N, Narus M, Weeks D, Nixon R. Intranuclearnemaline rod myopathy. Muscle Nerve. 2006 Sep;34(3):369-72.
  3. Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T. Nemaline myopathy with exclusively intranuclear rods and a novel mutation inACTA1 (Q139H). Neuropediatrics. 2007 Dec;38(6):282-6. doi:10.1055/s-2008-1065356.
  4. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S,Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC,Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal musclealpha-actin gene (ACTA1). Hum Mutat. 2009 Sep;30(9):1267-77. doi:10.1002/humu.21059.
  5. Ochala J. Thin filament proteins mutations associated with skeletalmyopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9.
  6. Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N,Nonaka I, Laing NG. Muscle disease caused by mutations in the skeletal musclealpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep;13(7-8):519-31. Review.
  7. Weeks DA, Nixon RR, Kaimaktchiev V, Mierau GW. Intranuclear rod myopathy, arare and morphologically striking variant of nemaline rod myopathy. UltrastructPathol. 2003 May-Jun;27(3):151-4.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 971
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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