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Yang, C. CAV3-Related Distal Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/5069 (accessed on 22 September 2026).
Yang C. CAV3-Related Distal Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/5069. Accessed September 22, 2026.
Yang, Catherine. "CAV3-Related Distal Myopathy" Encyclopedia, https://encyclopedia.pub/entry/5069 (accessed September 22, 2026).
Yang, C. (2020, December 24). CAV3-Related Distal Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/5069
Yang, Catherine. "CAV3-Related Distal Myopathy." Encyclopedia. Web. 24 December, 2020.
CAV3-Related Distal Myopathy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy

CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet.

genetic conditions

References

  1. Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, HudsonJ, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--newmutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi:10.1016/j.nmd.2008.05.003.
  2. Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implicationsof caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol.2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4. Review.
  3. Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: fromthe biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103.in: Eur J Hum Genet. 2009 Dec;17(12):1692.
  4. Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y.Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [corrected to Itoyama Y].
  5. Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies:mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.Neurology. 2004 Feb 24;62(4):538-43. 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
View Times: 799
Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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