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Yang, C. Actin-accumulation Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4446 (accessed on 25 September 2026).
Yang C. Actin-accumulation Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4446. Accessed September 25, 2026.
Yang, Catherine. "Actin-accumulation Myopathy" Encyclopedia, https://encyclopedia.pub/entry/4446 (accessed September 25, 2026).
Yang, C. (2020, December 23). Actin-accumulation Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/4446
Yang, Catherine. "Actin-accumulation Myopathy." Encyclopedia. Web. 23 December, 2020.
Actin-accumulation Myopathy
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy

Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.

genetic conditions

References

  1. Bornemann A, Petersen MB, Schmalbruch H. Fatal congenital myopathy with actin filament deposits. Acta Neuropathol. 1996 Jul;92(1):104-8.
  2. 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.
  3. Goebel HH, Anderson JR, Hübner C, Oexle K, Warlo I. Congenital myopathy withexcess of thin myofilaments. Neuromuscul Disord. 1997 May;7(3):160-8.
  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. Nowak KJ, Ravenscroft G, Laing NG. Skeletal muscle α-actin diseases(actinopathies): pathology and mechanisms. Acta Neuropathol. 2013Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z.
  6. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, MüllerCR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ,Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.Nat Genet. 1999 Oct;23(2):208-12.
  7. 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.
  8. Schröder JM, Durling H, Laing N. Actin myopathy with nemaline bodies,intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). ActaNeuropathol. 2004 Sep;108(3):250-6.
  9. 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.
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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 : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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