Miyoshi Myopathy

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Xu, R. Miyoshi Myopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4247 (accessed on 26 September 2026).

Xu R. Miyoshi Myopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4247. Accessed September 26, 2026.

Xu, Rita. "Miyoshi Myopathy" Encyclopedia, https://encyclopedia.pub/entry/4247 (accessed September 26, 2026).

Xu, R. (2020, December 23). Miyoshi Myopathy. In Encyclopedia. https://encyclopedia.pub/entry/4247

Xu, Rita. "Miyoshi Myopathy." Encyclopedia. Web. 23 December, 2020.

Miyoshi Myopathy

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/miyoshi-myopathy

Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.

genetic conditions

References

Amato AA, Brown RH Jr. Dysferlinopathies. Handb Clin Neurol. 2011;101:111-8.doi: 10.1016/B978-0-08-045031-5.00007-4. Review.
Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol(Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005.
Fanin M, Angelini C. Progress and challenges in diagnosis of dysferlinopathy. Muscle Nerve. 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. Review.
Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR3rd, Milone M. ANO5-muscular dystrophy: clinical, pathological and molecularfindings. Eur J Neurol. 2013 Oct;20(10):1383-9. doi: 10.1111/ene.12191.
Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. Eur J Neurol. 2013 Jun;20(6):968-74. doi: 10.1111/ene.12129.
Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, PougetJ, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat.2005 Aug;26(2):165.
Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA. Dysferlin aggregation inlimb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutationalscreen for diagnosis [corrected]. Muscle Nerve. 2013 May;47(5):740-7. doi:10.1002/mus.23666.Aug;48(2):310.
Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Eight new mutations and theexpanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682.Erratum in: Neurology. 2013 Jan 8;80(2):226.
Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M. Comparingclinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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