Multiminicore Disease

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Rita Xu	+ 1034 word(s)	1034	2020-12-15 07:32:10

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Xu, R. Multiminicore Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4332 (accessed on 28 September 2026).

Xu R. Multiminicore Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4332. Accessed September 28, 2026.

Xu, Rita. "Multiminicore Disease" Encyclopedia, https://encyclopedia.pub/entry/4332 (accessed September 28, 2026).

Xu, R. (2020, December 23). Multiminicore Disease. In Encyclopedia. https://encyclopedia.pub/entry/4332

Xu, Rita. "Multiminicore Disease." Encyclopedia. Web. 23 December, 2020.

Multiminicore Disease

Edit

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

Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.

genetic conditions

References

Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA,Guicheney P, Fardeau M. Multi-minicore disease--searching for boundaries:phenotype analysis of 38 cases. Ann Neurol. 2000 Nov;48(5):745-57.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F,Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Mutations of theselenoprotein N gene, which is implicated in rigid spine muscular dystrophy,cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2002 Oct;71(4):739-49.
Fusto A, Moyle LA, Gilbert PM, Pegoraro E. Cored in the act: the use of modelsto understand core myopathies. Dis Model Mech. 2019 Dec 19;12(12). pii:dmm041368. doi: 10.1242/dmm.041368. Review.
Jungbluth H, Beggs A, Bönnemann C, Bushby K, Ceuterick-de Groote C,Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F,Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. 111th ENMC InternationalWorkshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November2002, Naarden, The Netherlands. Neuromuscul Disord. 2004 Nov;14(11):754-66.
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R,Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contractioncoupling and muscle contraction. Nat Rev Neurol. 2018 Mar;14(3):151-167. doi:10.1038/nrneurol.2017.191.
Jungbluth H. Multi-minicore Disease. Orphanet J Rare Dis. 2007 Jul 13;2:31.Review.
Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies:Diagnostic and Therapeutic Approaches. Neurotherapeutics. 2018 Oct;15(4):885-899.doi: 10.1007/s13311-018-00677-1. Review.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

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 : Rita Xu

View Times: 816

Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

Video Upload Options

References