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Xu, C. LAMA2-Related Muscular Dystrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4441 (accessed on 25 September 2026).
Xu C. LAMA2-Related Muscular Dystrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4441. Accessed September 25, 2026.
Xu, Camila. "LAMA2-Related Muscular Dystrophy" Encyclopedia, https://encyclopedia.pub/entry/4441 (accessed September 25, 2026).
Xu, C. (2020, December 23). LAMA2-Related Muscular Dystrophy. In Encyclopedia. https://encyclopedia.pub/entry/4441
Xu, Camila. "LAMA2-Related Muscular Dystrophy." Encyclopedia. Web. 23 December, 2020.
LAMA2-Related Muscular Dystrophy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/lama2-related-muscular-dystrophy

LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.

genetic conditions

References

  1. Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M. Merosin-deficientcongenital muscular dystrophy type 1A. Rom J Morphol Embryol. 2008;49(2):229-33.
  2. Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K,Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, AngeliniC, Vissing J, Pegoraro E. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve. 2011 Nov;44(5):703-9.doi: 10.1002/mus.22132.
  3. Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L,Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Genotype-phenotype correlation in alarge population of muscular dystrophy patients with LAMA2 mutations. NeuromusculDisord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001.
  4. Løkken N, Born AP, Duno M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015Oct;52(4):547-53. doi: 10.1002/mus.24588.
  5. Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, FioriniC, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC,Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C,Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG. Results of a two-year pilotstudy of clinical outcome measures in collagen VI- and laminin alpha2-relatedcongenital muscular dystrophies. Neuromuscul Disord. 2015 Jan;25(1):43-54. doi:10.1016/j.nmd.2014.09.010.
  6. Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical anddiagnostic aspects. Arq Neuropsiquiatr. 2009 Mar;67(1):144-68. Review.
  7. Reed UC. Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr. 2009 Jun;67(2A):343-62. Review.
  8. Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S,Manzur A, Bushby K, Muntoni F. Congenital muscular dystrophies in the UKpopulation: Clinical and molecular spectrum of a large cohort diagnosed over a12-year period. Neuromuscul Disord. 2017 Sep;27(9):793-803. doi:10.1016/j.nmd.2017.06.008.
  9. Xiong H, Tan D, Wang S, Song S, Yang H, Gao K, Liu A, Jiao H, Mao B, Ding J,Chang X, Wang J, Wu Y, Yuan Y, Jiang Y, Zhang F, Wu H, Wu X. Genotype/phenotypeanalysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. Clin Genet. 2015 Mar;87(3):233-43. doi: 10.1111/cge.12366.
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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
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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